Canonical Allele Identifier: CA2646882480

Gene: AKNAD1 GPSM2

Linked Data

• gnomAD v4: 1-108876938-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.108876938G>T , CM000663.2:g.108876938G>T	GRCh38
NC_000001.10:g.109419560G>T , CM000663.1:g.109419560G>T	GRCh37
NC_000001.9:g.109221083G>T	NCBI36
NG_028108.1:g.4958G>T
NG_028108.2:g.6589G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357393.6:c.1-27362C>A (AKNAD1)	ENSP00000349968.6:n.1-27362C>A
ENST00000357393.5:c.115-27362C>A	ENSP00000349968.5:n.115-27362C>A
ENST00000406462.6:c.-539G>T (GPSM2)	ENSP00000385510.1:n.-539G>T
XM_005270787.2:c.-307G>T (GPSM2)	XP_005270844.1:n.-307G>T
XM_006710589.1:c.-292G>T (GPSM2)	XP_006710652.1:n.-292G>T
XM_011541301.1:c.-539G>T (GPSM2)	XP_011539603.1:n.-539G>T
XM_011541303.1:c.-539G>T (GPSM2)	XP_011539605.1:n.-539G>T
XM_006710589.3:c.-292G>T (GPSM2)	XP_006710652.1:n.-292G>T
XM_011541301.2:c.-539G>T (GPSM2)	XP_011539603.1:n.-539G>T
XM_011541302.3:c.-783G>T (GPSM2)	XP_011539604.1:n.-783G>T
XM_011541303.3:c.-539G>T (GPSM2)	XP_011539605.1:n.-539G>T
XM_017001097.2:c.-689G>T (GPSM2)	XP_016856586.1:n.-689G>T
XM_017001098.2:c.-457G>T (GPSM2)	XP_016856587.1:n.-457G>T