Canonical Allele Identifier: CA276791213

Gene: ABCA17P

Linked Data

• dbSNP Id: rs956403623 ; rs2141730263
• gnomAD v2: 16-2390766-C-G
• gnomAD v3: 16-2340765-C-G
• gnomAD v4: 16-2340765-C-G
• MyVariant Identifiers: chr16:g.2390766C>G (hg19) ; chr16:g.2340765C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2340765C>G , CM000678.2:g.2340765C>G	GRCh38
NC_000016.9:g.2390766C>G , CM000678.1:g.2390766C>G	GRCh37
NC_000016.8:g.2330767C>G	NCBI36
NG_011790.1:g.4982G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000640929.1:n.42+1434C>G
ENST00000512848.5:n.182+1434C>G