Canonical Allele Identifier: CA973791964

Gene: ABCA17P ABCA3

Linked Data

• dbSNP Id: rs1840679347
• gnomAD v3: 16-2340736-G-T
• gnomAD v4: 16-2340736-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2340736G>T , CM000678.2:g.2340736G>T	GRCh38
NC_000016.9:g.2390737G>T , CM000678.1:g.2390737G>T	GRCh37
NC_000016.8:g.2330738G>T	NCBI36
NG_011790.1:g.5011C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000640929.1:n.42+1405G>T (ABCA17P)
ENST00000382381.7:c.-702C>A (ABCA3)	ENSP00000371818.3:n.-702C>A
ENST00000512848.5:n.182+1405G>T (ABCA17P)
NM_001089.2:c.-702C>A (ABCA3)	NP_001080.2:n.-702C>A