Canonical Allele Identifier: CA394304488
Gene: ABCA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2277935T>G , CM000678.2:g.2277935T>G GRCh38
NC_000016.9:g.2327936T>G , CM000678.1:g.2327936T>G GRCh37
NC_000016.8:g.2267937T>G NCBI36
NG_011790.1:g.67812A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4853A>C MANE Select ENSP00000301732.5:p.Glu1618Ala
ENST00000301732.9:c.4853A>C ENSP00000301732.5:p.Glu1618Ala
ENST00000382381.7:c.4679A>C ENSP00000371818.3:p.Glu1560Ala
NM_001089.2:c.4853A>C NP_001080.2:p.Glu1618Ala
NM_001089.3:c.4853A>C MANE Select NP_001080.2:p.Glu1618Ala