Canonical Allele Identifier: CA276791243

Gene: ABCA17P

Linked Data

• dbSNP Id: rs1018090375
• gnomAD v3: 16-2340844-G-C
• gnomAD v4: 16-2340844-G-C
• MyVariant Identifiers: chr16:g.2390845G>C (hg19) ; chr16:g.2340844G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2340844G>C , CM000678.2:g.2340844G>C	GRCh38
NC_000016.9:g.2390845G>C , CM000678.1:g.2390845G>C	GRCh37
NC_000016.8:g.2330846G>C	NCBI36
NG_011790.1:g.4903C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000640929.1:n.42+1513G>C
ENST00000512848.5:n.182+1513G>C