Canonical Allele Identifier: CA2202145385
Gene: ABCA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2276637T= , CM000678.2:g.2276637T= GRCh38
NC_000016.9:g.2326638T= , CM000678.1:g.2326638T= GRCh37
NC_000016.8:g.2266639T= NCBI36
NG_011790.1:g.69110A=

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.*37A= MANE Select ENSP00000301732.5:n.*37A=
ENST00000301732.9:c.*37A= ENSP00000301732.5:n.*37A=
ENST00000382381.7:c.*37A= ENSP00000371818.3:n.*37A=
NM_001089.2:c.*37A= NP_001080.2:n.*37A=
NM_001089.3:c.*37A= MANE Select NP_001080.2:n.*37A=