Canonical Allele Identifier: CA7840044
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs757745444
gnomAD v2: 16-2328293-G-A
gnomAD v4: 16-2278292-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278292G>A , CM000678.2:g.2278292G>A GRCh38
NC_000016.9:g.2328293G>A , CM000678.1:g.2328293G>A GRCh37
NC_000016.8:g.2268294G>A NCBI36
NG_011790.1:g.67455C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4714C>T MANE Select ENSP00000301732.5:p.His1572Tyr
ENST00000301732.9:c.4714C>T ENSP00000301732.5:p.His1572Tyr
ENST00000382381.7:c.4540C>T ENSP00000371818.3:p.His1514Tyr
NM_001089.2:c.4714C>T NP_001080.2:p.His1572Tyr
NM_001089.3:c.4714C>T MANE Select NP_001080.2:p.His1572Tyr