Canonical Allele Identifier: CA276791207

Gene: ABCA17P

Linked Data

• dbSNP Id: rs896358022 ; rs2141730225
• gnomAD v2: 16-2390748-T-C
• gnomAD v3: 16-2340747-T-C
• gnomAD v4: 16-2340747-T-C
• MyVariant Identifiers: chr16:g.2390748T>C (hg19) ; chr16:g.2340747T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2340747T>C , CM000678.2:g.2340747T>C	GRCh38
NC_000016.9:g.2390748T>C , CM000678.1:g.2390748T>C	GRCh37
NC_000016.8:g.2330749T>C	NCBI36
NG_011790.1:g.5000A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000640929.1:n.42+1416T>C
ENST00000512848.5:n.182+1416T>C