Canonical Allele Identifier: CA719188534

Gene: ABCA17P

Linked Data

• dbSNP Id: rs922089875
• gnomAD v3: 16-2340769-G-C
• gnomAD v4: 16-2340769-G-C
• MyVariant Identifiers: chr16:g.2390770G>C (hg19) ; chr16:g.2340769G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2340769G>C , CM000678.2:g.2340769G>C	GRCh38
NC_000016.9:g.2390770G>C , CM000678.1:g.2390770G>C	GRCh37
NC_000016.8:g.2330771G>C	NCBI36
NG_011790.1:g.4978C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000640929.1:n.42+1438G>C
ENST00000512848.5:n.182+1438G>C