Canonical Allele Identifier: CA367398799

Gene: GCK

Linked Data

• gnomAD v4: 7-44145615-C-T
• MyVariant Identifiers: chr7:g.44185214C>T (hg19) ; chr7:g.44145615C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145615C>T , CM000669.2:g.44145615C>T	GRCh38
NC_000007.13:g.44185214C>T , CM000669.1:g.44185214C>T	GRCh37
NC_000007.12:g.44151739C>T	NCBI36
NG_008847.1:g.48809G>A
NG_008847.2:g.57556G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1133G>A	ENSP00000379142.4:n.*1133G>A
ENST00000616242.5:c.*255G>A	ENSP00000482149.2:n.*255G>A
ENST00000683378.1:n.361G>A
ENST00000336642.9:c.169G>A	ENSP00000338009.5:p.Ala57Thr
ENST00000345378.7:c.1138G>A	ENSP00000223366.2:p.Ala380Thr
ENST00000403799.8:c.1135G>A MANE Select	ENSP00000384247.3:p.Ala379Thr
ENST00000671824.1:c.1198G>A	ENSP00000500264.1:p.Ala400Thr
ENST00000672743.1:n.147G>A
ENST00000673284.1:c.1135G>A	ENSP00000499852.1:p.Ala379Thr
ENST00000336642.8:c.187G>A	ENSP00000338009.4:p.Ala63Thr
ENST00000345378.6:c.1138G>A	ENSP00000223366.2:p.Ala380Thr
ENST00000395796.7:c.1132G>A	ENSP00000379142.3:p.Ala378Thr
ENST00000403799.7:c.1135G>A	ENSP00000384247.3:p.Ala379Thr
ENST00000437084.1:c.1084G>A	ENSP00000402840.1:p.Ala362Thr
ENST00000459642.1:n.515G>A
ENST00000616242.4:c.1132G>A	ENSP00000482149.1:p.Ala378Thr
NM_000162.3:c.1135G>A	NP_000153.1:p.Ala379Thr
NM_033507.1:c.1138G>A	NP_277042.1:p.Ala380Thr
NM_033508.1:c.1132G>A	NP_277043.1:p.Ala378Thr
NM_000162.4:c.1135G>A	NP_000153.1:p.Ala379Thr
NM_001354800.1:c.1135G>A	NP_001341729.1:p.Ala379Thr
NM_001354801.1:c.124G>A	NP_001341730.1:p.Ala42Thr
NM_001354802.1:c.-6G>A	NP_001341731.1:n.-6G>A
NM_001354803.1:c.169G>A	NP_001341732.1:p.Ala57Thr
NM_033507.2:c.1138G>A	NP_277042.1:p.Ala380Thr
NM_033508.2:c.1132G>A	NP_277043.1:p.Ala378Thr
XM_024446707.1:c.-6G>A	XP_024302475.1:n.-6G>A
NM_000162.5:c.1135G>A MANE Select	NP_000153.1:p.Ala379Thr
NM_033507.3:c.1138G>A	NP_277042.1:p.Ala380Thr
NM_033508.3:c.1132G>A	NP_277043.1:p.Ala378Thr
NM_001354803.2:c.169G>A	NP_001341732.1:p.Ala57Thr