Canonical Allele Identifier: CA394351648
Gene: ABCA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2326010C>T , CM000678.2:g.2326010C>T GRCh38
NC_000016.9:g.2376011C>T , CM000678.1:g.2376011C>T GRCh37
NC_000016.8:g.2316012C>T NCBI36
NG_011790.1:g.19737G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.319G>A MANE Select ENSP00000301732.5:p.Val107Met
ENST00000301732.9:c.319G>A ENSP00000301732.5:p.Val107Met
ENST00000382381.7:c.319G>A ENSP00000371818.3:p.Val107Met
ENST00000563623.5:n.882G>A
ENST00000567910.1:c.319G>A ENSP00000454397.1:p.Val107Met
NM_001089.2:c.319G>A NP_001080.2:p.Val107Met
NM_001089.3:c.319G>A MANE Select NP_001080.2:p.Val107Met