Canonical Allele Identifier: CA276791230

Gene: ABCA17P

Linked Data

• dbSNP Id: rs1030766347
• gnomAD v4: 16-2340777-C-A
• MyVariant Identifiers: chr16:g.2390778C>A (hg19) ; chr16:g.2340777C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2340777C>A , CM000678.2:g.2340777C>A	GRCh38
NC_000016.9:g.2390778C>A , CM000678.1:g.2390778C>A	GRCh37
NC_000016.8:g.2330779C>A	NCBI36
NG_011790.1:g.4970G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000640929.1:n.42+1446C>A
ENST00000512848.5:n.182+1446C>A