Canonical Allele Identifier: CA2202145388
Gene: ABCA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2276642T= , CM000678.2:g.2276642T= GRCh38
NC_000016.9:g.2326643T= , CM000678.1:g.2326643T= GRCh37
NC_000016.8:g.2266644T= NCBI36
NG_011790.1:g.69105A=

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.*32A= MANE Select ENSP00000301732.5:n.*32A=
ENST00000301732.9:c.*32A= ENSP00000301732.5:n.*32A=
ENST00000382381.7:c.*32A= ENSP00000371818.3:n.*32A=
NM_001089.2:c.*32A= NP_001080.2:n.*32A=
NM_001089.3:c.*32A= MANE Select NP_001080.2:n.*32A=