Canonical Allele Identifier: CA719188489

Gene: ABCA17P

Linked Data

• dbSNP Id: rs1384598075
• gnomAD v3: 16-2340748-C-T
• gnomAD v4: 16-2340748-C-T
• MyVariant Identifiers: chr16:g.2390749C>T (hg19) ; chr16:g.2340748C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2340748C>T , CM000678.2:g.2340748C>T	GRCh38
NC_000016.9:g.2390749C>T , CM000678.1:g.2390749C>T	GRCh37
NC_000016.8:g.2330750C>T	NCBI36
NG_011790.1:g.4999G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000640929.1:n.42+1417C>T
ENST00000512848.5:n.182+1417C>T