Canonical Allele Identifier: CA367403883
Gene: GCK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44153463C>G , CM000669.2:g.44153463C>G GRCh38
NC_000007.13:g.44193062C>G , CM000669.1:g.44193062C>G GRCh37
NC_000007.12:g.44159587C>G NCBI36
NG_008847.1:g.40961G>C
NG_008847.2:g.49708G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*44G>C ENSP00000379142.4:n.*44G>C
ENST00000616242.5:c.46G>C ENSP00000482149.2:p.Val16Leu
ENST00000682635.1:n.532G>C
ENST00000345378.7:c.49G>C ENSP00000223366.2:p.Val17Leu
ENST00000403799.8:c.46G>C MANE Select ENSP00000384247.3:p.Val16Leu
ENST00000671824.1:c.46G>C ENSP00000500264.1:p.Val16Leu
ENST00000673284.1:c.46G>C ENSP00000499852.1:p.Val16Leu
ENST00000345378.6:c.49G>C ENSP00000223366.2:p.Val17Leu
ENST00000395796.7:c.43G>C ENSP00000379142.3:p.Val15Leu
ENST00000403799.7:c.46G>C ENSP00000384247.3:p.Val16Leu
ENST00000437084.1:c.46G>C ENSP00000402840.1:p.Val16Leu
ENST00000476008.1:n.481G>C
ENST00000616242.4:c.43G>C ENSP00000482149.1:p.Val15Leu
NM_000162.3:c.46G>C NP_000153.1:p.Val16Leu
NM_033507.1:c.49G>C NP_277042.1:p.Val17Leu
NM_033508.1:c.43G>C NP_277043.1:p.Val15Leu
NM_000162.4:c.46G>C NP_000153.1:p.Val16Leu
NM_001354800.1:c.46G>C NP_001341729.1:p.Val16Leu
NM_033507.2:c.49G>C NP_277042.1:p.Val17Leu
NM_033508.2:c.43G>C NP_277043.1:p.Val15Leu
NM_000162.5:c.46G>C MANE Select NP_000153.1:p.Val16Leu
NM_033507.3:c.49G>C NP_277042.1:p.Val17Leu
NM_033508.3:c.43G>C NP_277043.1:p.Val15Leu