Canonical Allele Identifier: CA2844631219

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2285416C>G , CM000678.2:g.2285416C>G	GRCh38
NC_000016.9:g.2335417C>G , CM000678.1:g.2335417C>G	GRCh37
NC_000016.8:g.2275418C>G	NCBI36
NG_011790.1:g.60331G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.3483+26G>C MANE Select	ENSP00000301732.5:n.3483+26G>C
ENST00000301732.9:c.3483+26G>C	ENSP00000301732.5:n.3483+26G>C
ENST00000382381.7:c.3309+26G>C	ENSP00000371818.3:n.3309+26G>C
NM_001089.2:c.3483+26G>C	NP_001080.2:n.3483+26G>C
NM_001089.3:c.3483+26G>C MANE Select	NP_001080.2:n.3483+26G>C