Canonical Allele Identifier: CA2631192891
Gene: ABCA17P HGNC NCBI

Linked Data

gnomAD v4: 16-2340903-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340903T>C , CM000678.2:g.2340903T>C GRCh38
NC_000016.9:g.2390904T>C , CM000678.1:g.2390904T>C GRCh37
NC_000016.8:g.2330905T>C NCBI36
NG_011790.1:g.4844A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000640929.1:n.42+1572T>C
ENST00000512848.5:n.182+1572T>C