Canonical Allele Identifier: CA2514122583

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2315273T>G , CM000678.2:g.2315273T>G	GRCh38
NC_000016.9:g.2365274T>G , CM000678.1:g.2365274T>G	GRCh37
NC_000016.8:g.2305275T>G	NCBI36
NG_011790.1:g.30474A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.1111+2010A>C MANE Select	ENSP00000301732.5:n.1111+2010A>C
ENST00000301732.9:c.1111+2010A>C	ENSP00000301732.5:n.1111+2010A>C
ENST00000382381.7:c.1111+2010A>C	ENSP00000371818.3:n.1111+2010A>C
ENST00000563623.5:n.1674+2010A>C
NM_001089.2:c.1111+2010A>C	NP_001080.2:n.1111+2010A>C
NM_001089.3:c.1111+2010A>C MANE Select	NP_001080.2:n.1111+2010A>C