Canonical Allele Identifier: CA454606448

Gene: GCK

Linked Data

• gnomAD v4: 7-44145199-A-G
• MyVariant Identifiers: chr7:g.44184798A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145199A>G , CM000669.2:g.44145199A>G	GRCh38
NC_000007.13:g.44184798A>G , CM000669.1:g.44184798A>G	GRCh37
NC_000007.12:g.44151323A>G	NCBI36
NG_008847.1:g.49225T>C
NG_008847.2:g.57972T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1333T>C	ENSP00000379142.4:n.*1333T>C
ENST00000616242.5:c.*455T>C	ENSP00000482149.2:n.*455T>C
ENST00000683378.1:n.561T>C
ENST00000336642.9:c.369T>C	ENSP00000338009.5:p.Ser123=
ENST00000345378.7:c.1338T>C	ENSP00000223366.2:p.Ser446=
ENST00000403799.8:c.1335T>C MANE Select	ENSP00000384247.3:p.Ser445=
ENST00000671824.1:c.1398T>C	ENSP00000500264.1:p.Ser466=
ENST00000672743.1:n.347T>C
ENST00000673284.1:c.1335T>C	ENSP00000499852.1:p.Ser445=
ENST00000336642.8:c.387T>C	ENSP00000338009.4:p.Ser129=
ENST00000345378.6:c.1338T>C	ENSP00000223366.2:p.Ser446=
ENST00000395796.7:c.1332T>C	ENSP00000379142.3:p.Ser444=
ENST00000403799.7:c.1335T>C	ENSP00000384247.3:p.Ser445=
ENST00000437084.1:c.1284T>C	ENSP00000402840.1:p.Ser428=
ENST00000459642.1:n.715T>C
ENST00000616242.4:c.1332T>C	ENSP00000482149.1:p.Ser444=
NM_000162.3:c.1335T>C	NP_000153.1:p.Ser445=
NM_033507.1:c.1338T>C	NP_277042.1:p.Ser446=
NM_033508.1:c.1332T>C	NP_277043.1:p.Ser444=
NM_000162.4:c.1335T>C	NP_000153.1:p.Ser445=
NM_001354800.1:c.1335T>C	NP_001341729.1:p.Ser445=
NM_001354801.1:c.324T>C	NP_001341730.1:p.Ser108=
NM_001354802.1:c.195T>C	NP_001341731.1:p.Ser65=
NM_001354803.1:c.369T>C	NP_001341732.1:p.Ser123=
NM_033507.2:c.1338T>C	NP_277042.1:p.Ser446=
NM_033508.2:c.1332T>C	NP_277043.1:p.Ser444=
XM_024446707.1:c.195T>C	XP_024302475.1:p.Ser65=
NM_000162.5:c.1335T>C MANE Select	NP_000153.1:p.Ser445=
NM_033507.3:c.1338T>C	NP_277042.1:p.Ser446=
NM_033508.3:c.1332T>C	NP_277043.1:p.Ser444=
NM_001354803.2:c.369T>C	NP_001341732.1:p.Ser123=