Canonical Allele Identifier: CA2603142943

Gene: AKNAD1 GPSM2

Linked Data

• dbSNP Id: rs963369860
• gnomAD v3: 1-108876910-G-T
• gnomAD v4: 1-108876910-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.108876910G>T , CM000663.2:g.108876910G>T	GRCh38
NC_000001.10:g.109419532G>T , CM000663.1:g.109419532G>T	GRCh37
NC_000001.9:g.109221055G>T	NCBI36
NG_028108.1:g.4930G>T
NG_028108.2:g.6561G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000357393.6:c.1-27334C>A (AKNAD1)	ENSP00000349968.6:n.1-27334C>A
ENST00000357393.5:c.115-27334C>A	ENSP00000349968.5:n.115-27334C>A
ENST00000406462.6:c.-567G>T (GPSM2)	ENSP00000385510.1:n.-567G>T
XM_005270787.2:c.-335G>T (GPSM2)	XP_005270844.1:n.-335G>T
XM_006710589.1:c.-320G>T (GPSM2)	XP_006710652.1:n.-320G>T
XM_011541301.1:c.-567G>T (GPSM2)	XP_011539603.1:n.-567G>T
XM_011541303.1:c.-567G>T (GPSM2)	XP_011539605.1:n.-567G>T
XM_006710589.3:c.-320G>T (GPSM2)	XP_006710652.1:n.-320G>T
XM_011541301.2:c.-567G>T (GPSM2)	XP_011539603.1:n.-567G>T
XM_011541302.3:c.-811G>T (GPSM2)	XP_011539604.1:n.-811G>T
XM_011541303.3:c.-567G>T (GPSM2)	XP_011539605.1:n.-567G>T
XM_017001097.2:c.-717G>T (GPSM2)	XP_016856586.1:n.-717G>T
XM_017001098.2:c.-485G>T (GPSM2)	XP_016856587.1:n.-485G>T