Canonical Allele Identifier: CA2631192849
Gene: ABCA17P HGNC NCBI

Linked Data

gnomAD v4: 16-2340846-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340846C>A , CM000678.2:g.2340846C>A GRCh38
NC_000016.9:g.2390847C>A , CM000678.1:g.2390847C>A GRCh37
NC_000016.8:g.2330848C>A NCBI36
NG_011790.1:g.4901G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000640929.1:n.42+1515C>A
ENST00000512848.5:n.182+1515C>A