Canonical Allele Identifier: CA620708617

Gene: ABCA3 ABCA17P

Linked Data

• dbSNP Id: rs1347506581
• gnomAD v2: 16-2390609-C-T
• gnomAD v3: 16-2340608-C-T
• gnomAD v4: 16-2340608-C-T
• MyVariant Identifiers: chr16:g.2390609C>T (hg19) ; chr16:g.2340608C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2340608C>T , CM000678.2:g.2340608C>T	GRCh38
NC_000016.9:g.2390609C>T , CM000678.1:g.2390609C>T	GRCh37
NC_000016.8:g.2330610C>T	NCBI36
NG_011790.1:g.5139G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.-574G>A (ABCA3) MANE Select	ENSP00000301732.5:n.-574G>A
ENST00000640929.1:n.42+1277C>T (ABCA17P)
ENST00000301732.9:c.-574G>A (ABCA3)	ENSP00000301732.5:n.-574G>A
ENST00000382381.7:c.-574G>A (ABCA3)	ENSP00000371818.3:n.-574G>A
ENST00000512848.5:n.182+1277C>T (ABCA17P)
NM_001089.2:c.-574G>A (ABCA3)	NP_001080.2:n.-574G>A
NM_001089.3:c.-574G>A (ABCA3) MANE Select	NP_001080.2:n.-574G>A