Canonical Allele Identifier: CA2202166755

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2317581A= , CM000678.2:g.2317581A=	GRCh38
NC_000016.9:g.2367582A= , CM000678.1:g.2367582A=	GRCh37
NC_000016.8:g.2307583A=	NCBI36
NG_011790.1:g.28166T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000301732.10:c.990+67T= MANE Select	ENSP00000301732.5:n.990+67T=
ENST00000301732.9:c.990+67T=	ENSP00000301732.5:n.990+67T=
ENST00000382381.7:c.990+67T=	ENSP00000371818.3:n.990+67T=
ENST00000563623.5:n.1553+67T=
NM_001089.2:c.990+67T=	NP_001080.2:n.990+67T=
NM_001089.3:c.990+67T= MANE Select	NP_001080.2:n.990+67T=