Canonical Allele Identifier: CA367403632
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs1194717950
gnomAD v2: 7-44193015-C-G
gnomAD v4: 7-44153416-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44153416C>G , CM000669.2:g.44153416C>G GRCh38
NC_000007.13:g.44193015C>G , CM000669.1:g.44193015C>G GRCh37
NC_000007.12:g.44159540C>G NCBI36
NG_008847.1:g.41008G>C
NG_008847.2:g.49755G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*91G>C ENSP00000379142.4:n.*91G>C
ENST00000616242.5:c.93G>C ENSP00000482149.2:p.Lys31Asn
ENST00000682635.1:n.579G>C
ENST00000345378.7:c.96G>C ENSP00000223366.2:p.Lys32Asn
ENST00000403799.8:c.93G>C MANE Select ENSP00000384247.3:p.Lys31Asn
ENST00000671824.1:c.93G>C ENSP00000500264.1:p.Lys31Asn
ENST00000673284.1:c.93G>C ENSP00000499852.1:p.Lys31Asn
ENST00000345378.6:c.96G>C ENSP00000223366.2:p.Lys32Asn
ENST00000395796.7:c.90G>C ENSP00000379142.3:p.Lys30Asn
ENST00000403799.7:c.93G>C ENSP00000384247.3:p.Lys31Asn
ENST00000437084.1:c.93G>C ENSP00000402840.1:p.Lys31Asn
ENST00000476008.1:n.528G>C
ENST00000616242.4:c.90G>C ENSP00000482149.1:p.Lys30Asn
NM_000162.3:c.93G>C NP_000153.1:p.Lys31Asn
NM_033507.1:c.96G>C NP_277042.1:p.Lys32Asn
NM_033508.1:c.90G>C NP_277043.1:p.Lys30Asn
NM_000162.4:c.93G>C NP_000153.1:p.Lys31Asn
NM_001354800.1:c.93G>C NP_001341729.1:p.Lys31Asn
NM_033507.2:c.96G>C NP_277042.1:p.Lys32Asn
NM_033508.2:c.90G>C NP_277043.1:p.Lys30Asn
NM_000162.5:c.93G>C MANE Select NP_000153.1:p.Lys31Asn
NM_033507.3:c.96G>C NP_277042.1:p.Lys32Asn
NM_033508.3:c.90G>C NP_277043.1:p.Lys30Asn