Canonical Allele Identifier: CA620378115

Gene: ABCA3 ABCA17P

Linked Data

• dbSNP Id: rs1482169995
• gnomAD v2: 16-2390521-G-A
• gnomAD v3: 16-2340520-G-A
• gnomAD v4: 16-2340520-G-A
• MyVariant Identifiers: chr16:g.2390521G>A (hg19) ; chr16:g.2340520G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2340520G>A , CM000678.2:g.2340520G>A	GRCh38
NC_000016.9:g.2390521G>A , CM000678.1:g.2390521G>A	GRCh37
NC_000016.8:g.2330522G>A	NCBI36
NG_011790.1:g.5227C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000301732.10:c.-539+53C>T (ABCA3) MANE Select	ENSP00000301732.5:n.-539+53C>T
ENST00000640929.1:n.42+1189G>A (ABCA17P)
ENST00000301732.9:c.-539+53C>T (ABCA3)	ENSP00000301732.5:n.-539+53C>T
ENST00000382381.7:c.-539+53C>T (ABCA3)	ENSP00000371818.3:n.-539+53C>T
ENST00000512848.5:n.182+1189G>A (ABCA17P)
ENST00000563623.5:n.25+53C>T (ABCA3)
NM_001089.2:c.-539+53C>T (ABCA3)	NP_001080.2:n.-539+53C>T
NM_001089.3:c.-539+53C>T (ABCA3) MANE Select	NP_001080.2:n.-539+53C>T