Canonical Allele Identifier: CA719188480

Gene: ABCA17P ABCA3

Linked Data

• dbSNP Id: rs1005269740
• gnomAD v3: 16-2340744-C-G
• gnomAD v4: 16-2340744-C-G
• MyVariant Identifiers: chr16:g.2390745C>G (hg19) ; chr16:g.2340744C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2340744C>G , CM000678.2:g.2340744C>G	GRCh38
NC_000016.9:g.2390745C>G , CM000678.1:g.2390745C>G	GRCh37
NC_000016.8:g.2330746C>G	NCBI36
NG_011790.1:g.5003G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000640929.1:n.42+1413C>G (ABCA17P)
ENST00000382381.7:c.-710G>C (ABCA3)	ENSP00000371818.3:n.-710G>C
ENST00000512848.5:n.182+1413C>G (ABCA17P)
NM_001089.2:c.-710G>C (ABCA3)	NP_001080.2:n.-710G>C