Canonical Allele Identifier: CA973792145
Gene: ABCA17P HGNC NCBI

Linked Data

dbSNP Id: rs2093760646
gnomAD v3: 16-2340903-T-A
gnomAD v4: 16-2340903-T-A
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000640929.1:n.42+1572T>A
ENST00000512848.5:n.182+1572T>A
Search 100 bp 5'
Search 100 bp 3'