Canonical Allele Identifier: CA885313429

Gene: AKNAD1

Linked Data

• dbSNP Id: rs1244314787
• gnomAD v3: 1-108875056-T-C
• gnomAD v4: 1-108875056-T-C
• MyVariant Identifiers: chr1:g.109417678T>C (hg19) ; chr1:g.108875056T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.108875056T>C , CM000663.2:g.108875056T>C	GRCh38
NC_000001.10:g.109417678T>C , CM000663.1:g.109417678T>C	GRCh37
NC_000001.9:g.109219201T>C	NCBI36
NG_028108.1:g.3076T>C
NG_028108.2:g.4707T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357393.6:c.1-25480A>G	ENSP00000349968.6:n.1-25480A>G
ENST00000357393.5:c.115-25480A>G	ENSP00000349968.5:n.115-25480A>G
XR_001738178.1:n.103+84A>G