Canonical Allele Identifier: CA28585734

Gene: AKNAD1 GPSM2

Linked Data

• dbSNP Id: rs748543788
• gnomAD v2: 1-109419533-C-T
• gnomAD v3: 1-108876911-C-T
• gnomAD v4: 1-108876911-C-T
• MyVariant Identifiers: chr1:g.109419533C>T (hg19) ; chr1:g.108876911C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.108876911C>T , CM000663.2:g.108876911C>T	GRCh38
NC_000001.10:g.109419533C>T , CM000663.1:g.109419533C>T	GRCh37
NC_000001.9:g.109221056C>T	NCBI36
NG_028108.1:g.4931C>T
NG_028108.2:g.6562C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000357393.6:c.1-27335G>A (AKNAD1)	ENSP00000349968.6:n.1-27335G>A
ENST00000357393.5:c.115-27335G>A	ENSP00000349968.5:n.115-27335G>A
ENST00000406462.6:c.-566C>T (GPSM2)	ENSP00000385510.1:n.-566C>T
XM_005270787.2:c.-334C>T (GPSM2)	XP_005270844.1:n.-334C>T
XM_006710589.1:c.-319C>T (GPSM2)	XP_006710652.1:n.-319C>T
XM_011541301.1:c.-566C>T (GPSM2)	XP_011539603.1:n.-566C>T
XM_011541303.1:c.-566C>T (GPSM2)	XP_011539605.1:n.-566C>T
XM_006710589.3:c.-319C>T (GPSM2)	XP_006710652.1:n.-319C>T
XM_011541301.2:c.-566C>T (GPSM2)	XP_011539603.1:n.-566C>T
XM_011541302.3:c.-810C>T (GPSM2)	XP_011539604.1:n.-810C>T
XM_011541303.3:c.-566C>T (GPSM2)	XP_011539605.1:n.-566C>T
XM_017001097.2:c.-716C>T (GPSM2)	XP_016856586.1:n.-716C>T
XM_017001098.2:c.-484C>T (GPSM2)	XP_016856587.1:n.-484C>T