Canonical Allele Identifier: CA276791227
Gene: ABCA17P HGNC NCBI

Linked Data

gnomAD v2: 16-2390774-A-T
gnomAD v3: 16-2340773-A-T
gnomAD v4: 16-2340773-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340773A>T , CM000678.2:g.2340773A>T GRCh38
NC_000016.9:g.2390774A>T , CM000678.1:g.2390774A>T GRCh37
NC_000016.8:g.2330775A>T NCBI36
NG_011790.1:g.4974T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000640929.1:n.42+1442A>T
ENST00000512848.5:n.182+1442A>T