Canonical Allele Identifier: CA2202173310

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2326014C= , CM000678.2:g.2326014C=	GRCh38
NC_000016.9:g.2376015C= , CM000678.1:g.2376015C=	GRCh37
NC_000016.8:g.2316016C=	NCBI36
NG_011790.1:g.19733G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.315G= MANE Select	ENSP00000301732.5:p.Met105=
ENST00000301732.9:c.315G=	ENSP00000301732.5:p.Met105=
ENST00000382381.7:c.315G=	ENSP00000371818.3:p.Met105=
ENST00000563623.5:n.878G=
ENST00000567910.1:c.315G=	ENSP00000454397.1:p.Met105=
NM_001089.2:c.315G=	NP_001080.2:p.Met105=
NM_001089.3:c.315G= MANE Select	NP_001080.2:p.Met105=