Canonical Allele Identifier: CA2682585632

Gene: GCK

Linked Data

• gnomAD v4: 7-44146385-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146385G>A , CM000669.2:g.44146385G>A	GRCh38
NC_000007.13:g.44185984G>A , CM000669.1:g.44185984G>A	GRCh37
NC_000007.12:g.44152509G>A	NCBI36
NG_008847.1:g.48039C>T
NG_008847.2:g.56786C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1017+78C>T	ENSP00000379142.4:n.*1017+78C>T
ENST00000616242.5:c.*139+78C>T	ENSP00000482149.2:n.*139+78C>T
ENST00000683378.1:n.245+78C>T
ENST00000345378.7:c.1022+78C>T	ENSP00000223366.2:n.1022+78C>T
ENST00000403799.8:c.1019+78C>T MANE Select	ENSP00000384247.3:n.1019+78C>T
ENST00000671824.1:c.1082+78C>T	ENSP00000500264.1:n.1082+78C>T
ENST00000673284.1:c.1019+78C>T	ENSP00000499852.1:n.1019+78C>T
ENST00000345378.6:c.1022+78C>T	ENSP00000223366.2:n.1022+78C>T
ENST00000395796.7:c.1016+78C>T	ENSP00000379142.3:n.1016+78C>T
ENST00000403799.7:c.1019+78C>T	ENSP00000384247.3:n.1019+78C>T
ENST00000437084.1:c.968+78C>T	ENSP00000402840.1:n.968+78C>T
ENST00000473353.1:n.317+78C>T
ENST00000616242.4:c.1016+78C>T	ENSP00000482149.1:n.1016+78C>T
NM_000162.3:c.1019+78C>T	NP_000153.1:n.1019+78C>T
NM_033507.1:c.1022+78C>T	NP_277042.1:n.1022+78C>T
NM_033508.1:c.1016+78C>T	NP_277043.1:n.1016+78C>T
NM_000162.4:c.1019+78C>T	NP_000153.1:n.1019+78C>T
NM_001354800.1:c.1019+78C>T	NP_001341729.1:n.1019+78C>T
NM_001354801.1:c.8+234C>T	NP_001341730.1:n.8+234C>T
NM_033507.2:c.1022+78C>T	NP_277042.1:n.1022+78C>T
NM_033508.2:c.1016+78C>T	NP_277043.1:n.1016+78C>T
NM_000162.5:c.1019+78C>T MANE Select	NP_000153.1:n.1019+78C>T
NM_033507.3:c.1022+78C>T	NP_277042.1:n.1022+78C>T
NM_033508.3:c.1016+78C>T	NP_277043.1:n.1016+78C>T