Canonical Allele Identifier: CA44542030

Gene: GCKR

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27506880G>T , CM000664.2:g.27506880G>T	GRCh38
NC_000002.11:g.27729747G>T , CM000664.1:g.27729747G>T	GRCh37
NC_000002.10:g.27583251G>T	NCBI36
NG_028024.1:g.15042G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264717.7:c.1061G>T MANE Select	ENSP00000264717.2:p.Gly354Val
ENST00000264717.6:c.1061G>T	ENSP00000264717.2:p.Gly354Val
ENST00000411584.1:c.163G>T
ENST00000472290.1:n.1291G>T
NM_001486.3:c.1061G>T	NP_001477.2:p.Gly354Val
XM_011532761.1:c.990+279G>T	XP_011531063.1:n.990+279G>T
XM_011532762.1:c.491G>T	XP_011531064.1:p.Gly164Val
XM_011532763.1:c.968+301G>T	XP_011531065.1:n.968+301G>T
XM_017003796.1:c.491G>T	XP_016859285.1:p.Gly164Val
XM_017003797.1:c.491G>T	XP_016859286.1:p.Gly164Val
XR_001738699.1:n.1034+301G>T
NM_001486.4:c.1061G>T MANE Select	NP_001477.2:p.Gly354Val