Canonical Allele Identifier: CA2202169363
Gene: ABCA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2326335C= , CM000678.2:g.2326335C= GRCh38
NC_000016.9:g.2376336C= , CM000678.1:g.2376336C= GRCh37
NC_000016.8:g.2316337C= NCBI36
NG_011790.1:g.19412G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.55-61G= MANE Select ENSP00000301732.5:n.55-61G=
ENST00000301732.9:c.55-61G= ENSP00000301732.5:n.55-61G=
ENST00000382381.7:c.55-61G= ENSP00000371818.3:n.55-61G=
ENST00000563623.5:n.618-61G=
ENST00000567910.1:c.55-61G= ENSP00000454397.1:n.55-61G=
NM_001089.2:c.55-61G= NP_001080.2:n.55-61G=
NM_001089.3:c.55-61G= MANE Select NP_001080.2:n.55-61G=