Canonical Allele Identifier: CA367399990
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs1443983415
gnomAD v2: 7-44186150-C-T
gnomAD v3: 7-44146551-C-T
gnomAD v4: 7-44146551-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44146551C>T , CM000669.2:g.44146551C>T GRCh38
NC_000007.13:g.44186150C>T , CM000669.1:g.44186150C>T GRCh37
NC_000007.12:g.44152675C>T NCBI36
NG_008847.1:g.47873G>A
NG_008847.2:g.56620G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*929G>A ENSP00000379142.4:n.*929G>A
ENST00000616242.5:c.*51G>A ENSP00000482149.2:n.*51G>A
ENST00000683378.1:n.157G>A
ENST00000345378.7:c.934G>A ENSP00000223366.2:p.Asp312Asn
ENST00000403799.8:c.931G>A MANE Select ENSP00000384247.3:p.Asp311Asn
ENST00000671824.1:c.994G>A ENSP00000500264.1:p.Asp332Asn
ENST00000673284.1:c.931G>A ENSP00000499852.1:p.Asp311Asn
ENST00000345378.6:c.934G>A ENSP00000223366.2:p.Asp312Asn
ENST00000395796.7:c.928G>A ENSP00000379142.3:p.Asp310Asn
ENST00000403799.7:c.931G>A ENSP00000384247.3:p.Asp311Asn
ENST00000437084.1:c.880G>A ENSP00000402840.1:p.Asp294Asn
ENST00000473353.1:n.229G>A
ENST00000616242.4:c.928G>A ENSP00000482149.1:p.Asp310Asn
NM_000162.3:c.931G>A NP_000153.1:p.Asp311Asn
NM_033507.1:c.934G>A NP_277042.1:p.Asp312Asn
NM_033508.1:c.928G>A NP_277043.1:p.Asp310Asn
NM_000162.4:c.931G>A NP_000153.1:p.Asp311Asn
NM_001354800.1:c.931G>A NP_001341729.1:p.Asp311Asn
NM_001354801.1:c.8+68G>A NP_001341730.1:n.8+68G>A
NM_033507.2:c.934G>A NP_277042.1:p.Asp312Asn
NM_033508.2:c.928G>A NP_277043.1:p.Asp310Asn
NM_000162.5:c.931G>A MANE Select NP_000153.1:p.Asp311Asn
NM_033507.3:c.934G>A NP_277042.1:p.Asp312Asn
NM_033508.3:c.928G>A NP_277043.1:p.Asp310Asn