Canonical Allele Identifier: CA719188540

Gene: ABCA17P

Linked Data

• dbSNP Id: rs896441660
• gnomAD v3: 16-2340772-G-C
• gnomAD v4: 16-2340772-G-C
• MyVariant Identifiers: chr16:g.2390773G>C (hg19) ; chr16:g.2340772G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2340772G>C , CM000678.2:g.2340772G>C	GRCh38
NC_000016.9:g.2390773G>C , CM000678.1:g.2390773G>C	GRCh37
NC_000016.8:g.2330774G>C	NCBI36
NG_011790.1:g.4975C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000640929.1:n.42+1441G>C
ENST00000512848.5:n.182+1441G>C