Canonical Allele Identifier: CA2202146236

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278333G= , CM000678.2:g.2278333G=	GRCh38
NC_000016.9:g.2328334G= , CM000678.1:g.2328334G=	GRCh37
NC_000016.8:g.2268335G=	NCBI36
NG_011790.1:g.67414C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4673C= MANE Select	ENSP00000301732.5:p.Ala1558=
ENST00000301732.9:c.4673C=	ENSP00000301732.5:p.Ala1558=
ENST00000382381.7:c.4499C=	ENSP00000371818.3:p.Ala1500=
ENST00000566200.1:n.1194C=
NM_001089.2:c.4673C=	NP_001080.2:p.Ala1558=
NM_001089.3:c.4673C= MANE Select	NP_001080.2:p.Ala1558=