Canonical Allele Identifier: CA276791162

Gene: ABCA3 ABCA17P

Linked Data

• dbSNP Id: rs1043345651
• gnomAD v2: 16-2390369-G-T
• gnomAD v3: 16-2340368-G-T
• gnomAD v4: 16-2340368-G-T
• MyVariant Identifiers: chr16:g.2390369G>T (hg19) ; chr16:g.2340368G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2340368G>T , CM000678.2:g.2340368G>T	GRCh38
NC_000016.9:g.2390369G>T , CM000678.1:g.2390369G>T	GRCh37
NC_000016.8:g.2330370G>T	NCBI36
NG_011790.1:g.5379C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.-539+205C>A (ABCA3) MANE Select	ENSP00000301732.5:n.-539+205C>A
ENST00000640929.1:n.42+1037G>T (ABCA17P)
ENST00000301732.9:c.-539+205C>A (ABCA3)	ENSP00000301732.5:n.-539+205C>A
ENST00000382381.7:c.-539+205C>A (ABCA3)	ENSP00000371818.3:n.-539+205C>A
ENST00000512848.5:n.182+1037G>T (ABCA17P)
ENST00000563623.5:n.25+205C>A (ABCA3)
NM_001089.2:c.-539+205C>A (ABCA3)	NP_001080.2:n.-539+205C>A
NM_001089.3:c.-539+205C>A (ABCA3) MANE Select	NP_001080.2:n.-539+205C>A