Canonical Allele Identifier: CA973789769

Gene: ABCA3

Linked Data

• dbSNP Id: rs999552913
• gnomAD v3: 16-2337206-T-C
• gnomAD v4: 16-2337206-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2337206T>C , CM000678.2:g.2337206T>C	GRCh38
NC_000016.9:g.2387207T>C , CM000678.1:g.2387207T>C	GRCh37
NC_000016.8:g.2327208T>C	NCBI36
NG_011790.1:g.8541A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000301732.10:c.-539+3367A>G MANE Select	ENSP00000301732.5:n.-539+3367A>G
ENST00000301732.9:c.-539+3367A>G	ENSP00000301732.5:n.-539+3367A>G
ENST00000382381.7:c.-539+3367A>G	ENSP00000371818.3:n.-539+3367A>G
ENST00000563623.5:n.25+3367A>G
NM_001089.2:c.-539+3367A>G	NP_001080.2:n.-539+3367A>G
NM_001089.3:c.-539+3367A>G MANE Select	NP_001080.2:n.-539+3367A>G