Canonical Allele Identifier: CA4239800
Community Standard Title: NM_000162.5(GCK):c.10G>A (p.Asp4Asn)
Gene: GCK HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44188944C>T , CM000669.2:g.44188944C>T GRCh38
NC_000007.13:g.44228543C>T , CM000669.1:g.44228543C>T GRCh37
NC_000007.12:g.44195068C>T NCBI36
NG_008847.1:g.5480G>A
NG_008847.2:g.14227G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000162.5:c.10G>A MANE Select NP_000153.1:p.Asp4Asn
ENST00000403799.8:c.10G>A MANE Select ENSP00000384247.3:p.Asp4Asn
NM_000162.3:c.10G>A NP_000153.1:p.Asp4Asn
NM_000162.4:c.10G>A NP_000153.1:p.Asp4Asn
NM_001354800.1:c.10G>A NP_001341729.1:p.Asp4Asn
ENST00000403799.7:c.10G>A ENSP00000384247.3:p.Asp4Asn
ENST00000437084.1:c.10G>A ENSP00000402840.1:p.Asp4Asn
ENST00000476008.1:n.480+8747G>A
ENST00000616242.5:c.10G>A ENSP00000482149.2:p.Asp4Asn
ENST00000671824.1:c.10G>A ENSP00000500264.1:p.Asp4Asn
ENST00000673284.1:c.10G>A ENSP00000499852.1:p.Asp4Asn
ENST00000682635.1:n.496G>A
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