Canonical Allele Identifier: CA2603142912

Gene: AKNAD1

Linked Data

• dbSNP Id: rs749346338
• gnomAD v3: 1-108875062-T-G
• gnomAD v4: 1-108875062-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.108875062T>G , CM000663.2:g.108875062T>G	GRCh38
NC_000001.10:g.109417684T>G , CM000663.1:g.109417684T>G	GRCh37
NC_000001.9:g.109219207T>G	NCBI36
NG_028108.1:g.3082T>G
NG_028108.2:g.4713T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357393.6:c.1-25486A>C	ENSP00000349968.6:n.1-25486A>C
ENST00000357393.5:c.115-25486A>C	ENSP00000349968.5:n.115-25486A>C
XR_001738178.1:n.103+78A>C