Canonical Allele Identifier: CA2575882914

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2317590T>A , CM000678.2:g.2317590T>A	GRCh38
NC_000016.9:g.2367591T>A , CM000678.1:g.2367591T>A	GRCh37
NC_000016.8:g.2307592T>A	NCBI36
NG_011790.1:g.28157A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.990+58A>T MANE Select	ENSP00000301732.5:n.990+58A>T
ENST00000301732.9:c.990+58A>T	ENSP00000301732.5:n.990+58A>T
ENST00000382381.7:c.990+58A>T	ENSP00000371818.3:n.990+58A>T
ENST00000563623.5:n.1553+58A>T
NM_001089.2:c.990+58A>T	NP_001080.2:n.990+58A>T
NM_001089.3:c.990+58A>T MANE Select	NP_001080.2:n.990+58A>T