Canonical Allele Identifier: CA157913771
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs1034338314
gnomAD v3: 7-44145729-C-T
gnomAD v4: 7-44145729-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145729C>T , CM000669.2:g.44145729C>T GRCh38
NC_000007.13:g.44185328C>T , CM000669.1:g.44185328C>T GRCh37
NC_000007.12:g.44151853C>T NCBI36
NG_008847.1:g.48695G>A
NG_008847.2:g.57442G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1019G>A ENSP00000379142.4:n.*1019G>A
ENST00000616242.5:c.*141G>A ENSP00000482149.2:n.*141G>A
ENST00000683378.1:n.247G>A
ENST00000336642.9:c.55G>A ENSP00000338009.5:p.Asp19Asn
ENST00000345378.7:c.1024G>A ENSP00000223366.2:p.Asp342Asn
ENST00000403799.8:c.1021G>A MANE Select ENSP00000384247.3:p.Asp341Asn
ENST00000671824.1:c.1084G>A ENSP00000500264.1:p.Asp362Asn
ENST00000672743.1:n.33G>A
ENST00000673284.1:c.1021G>A ENSP00000499852.1:p.Asp341Asn
ENST00000336642.8:c.73G>A ENSP00000338009.4:p.Asp25Asn
ENST00000345378.6:c.1024G>A ENSP00000223366.2:p.Asp342Asn
ENST00000395796.7:c.1018G>A ENSP00000379142.3:p.Asp340Asn
ENST00000403799.7:c.1021G>A ENSP00000384247.3:p.Asp341Asn
ENST00000437084.1:c.970G>A ENSP00000402840.1:p.Asp324Asn
ENST00000459642.1:n.401G>A
ENST00000473353.1:n.319G>A
ENST00000616242.4:c.1018G>A ENSP00000482149.1:p.Asp340Asn
NM_000162.3:c.1021G>A NP_000153.1:p.Asp341Asn
NM_033507.1:c.1024G>A NP_277042.1:p.Asp342Asn
NM_033508.1:c.1018G>A NP_277043.1:p.Asp340Asn
NM_000162.4:c.1021G>A NP_000153.1:p.Asp341Asn
NM_001354800.1:c.1021G>A NP_001341729.1:p.Asp341Asn
NM_001354801.1:c.10G>A NP_001341730.1:p.Asp4Asn
NM_001354802.1:c.-120G>A NP_001341731.1:n.-120G>A
NM_001354803.1:c.55G>A NP_001341732.1:p.Asp19Asn
NM_033507.2:c.1024G>A NP_277042.1:p.Asp342Asn
NM_033508.2:c.1018G>A NP_277043.1:p.Asp340Asn
XM_024446707.1:c.-120G>A XP_024302475.1:n.-120G>A
NM_000162.5:c.1021G>A MANE Select NP_000153.1:p.Asp341Asn
NM_033507.3:c.1024G>A NP_277042.1:p.Asp342Asn
NM_033508.3:c.1018G>A NP_277043.1:p.Asp340Asn
NM_001354803.2:c.55G>A NP_001341732.1:p.Asp19Asn