Canonical Allele Identifier: CA2575883032

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2326320G>A , CM000678.2:g.2326320G>A	GRCh38
NC_000016.9:g.2376321G>A , CM000678.1:g.2376321G>A	GRCh37
NC_000016.8:g.2316322G>A	NCBI36
NG_011790.1:g.19427C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.55-46C>T MANE Select	ENSP00000301732.5:n.55-46C>T
ENST00000301732.9:c.55-46C>T	ENSP00000301732.5:n.55-46C>T
ENST00000382381.7:c.55-46C>T	ENSP00000371818.3:n.55-46C>T
ENST00000563623.5:n.618-46C>T
ENST00000567910.1:c.55-46C>T	ENSP00000454397.1:n.55-46C>T
NM_001089.2:c.55-46C>T	NP_001080.2:n.55-46C>T
NM_001089.3:c.55-46C>T MANE Select	NP_001080.2:n.55-46C>T