Canonical Allele Identifier: CA28585149
Gene: AKNAD1 HGNC NCBI

Linked Data

dbSNP Id: rs184432283
gnomAD v2: 1-109417701-G-A
gnomAD v3: 1-108875079-G-A
gnomAD v4: 1-108875079-G-A
MyVariant Identifiers: chr1:g.109417701G>A (hg19) chr1:g.108875079G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.108875079G>A , CM000663.2:g.108875079G>A GRCh38
NC_000001.10:g.109417701G>A , CM000663.1:g.109417701G>A GRCh37
NC_000001.9:g.109219224G>A NCBI36
NG_028108.1:g.3099G>A
NG_028108.2:g.4730G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357393.6:c.1-25503C>T ENSP00000349968.6:n.1-25503C>T
ENST00000357393.5:c.115-25503C>T ENSP00000349968.5:n.115-25503C>T
XR_001738178.1:n.103+61C>T
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