Canonical Allele Identifier: CA525266033

Gene: AKNAD1

Linked Data

• dbSNP Id: rs1310075414
• gnomAD v2: 1-109417646-C-G
• gnomAD v3: 1-108875024-C-G
• gnomAD v4: 1-108875024-C-G
• MyVariant Identifiers: chr1:g.109417646C>G (hg19) ; chr1:g.108875024C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.108875024C>G , CM000663.2:g.108875024C>G	GRCh38
NC_000001.10:g.109417646C>G , CM000663.1:g.109417646C>G	GRCh37
NC_000001.9:g.109219169C>G	NCBI36
NG_028108.1:g.3044C>G
NG_028108.2:g.4675C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357393.6:c.1-25448G>C	ENSP00000349968.6:n.1-25448G>C
ENST00000357393.5:c.115-25448G>C	ENSP00000349968.5:n.115-25448G>C
XR_001738178.1:n.103+116G>C