Canonical Allele Identifier: CA2202166826
Gene: ABCA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2317728G= , CM000678.2:g.2317728G= GRCh38
NC_000016.9:g.2367729G= , CM000678.1:g.2367729G= GRCh37
NC_000016.8:g.2307730G= NCBI36
NG_011790.1:g.28019C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.910C= MANE Select ENSP00000301732.5:p.His304=
ENST00000301732.9:c.910C= ENSP00000301732.5:p.His304=
ENST00000382381.7:c.910C= ENSP00000371818.3:p.His304=
ENST00000563623.5:n.1473C=
NM_001089.2:c.910C= NP_001080.2:p.His304=
NM_001089.3:c.910C= MANE Select NP_001080.2:p.His304=