Canonical Allele Identifier: CA2202149759

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2285552C= , CM000678.2:g.2285552C=	GRCh38
NC_000016.9:g.2335553C= , CM000678.1:g.2335553C=	GRCh37
NC_000016.8:g.2275554C=	NCBI36
NG_011790.1:g.60195G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.3373G= MANE Select	ENSP00000301732.5:p.Val1125=
ENST00000301732.9:c.3373G=	ENSP00000301732.5:p.Val1125=
ENST00000382381.7:c.3199G=	ENSP00000371818.3:p.Val1067=
NM_001089.2:c.3373G=	NP_001080.2:p.Val1125=
NM_001089.3:c.3373G= MANE Select	NP_001080.2:p.Val1125=