Canonical Allele Identifier: CA973783101
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs928585910
gnomAD v3: 16-2276611-G-T
gnomAD v4: 16-2276611-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2276611G>T , CM000678.2:g.2276611G>T GRCh38
NC_000016.9:g.2326612G>T , CM000678.1:g.2326612G>T GRCh37
NC_000016.8:g.2266613G>T NCBI36
NG_011790.1:g.69136C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.*63C>A MANE Select ENSP00000301732.5:n.*63C>A
ENST00000301732.9:c.*63C>A ENSP00000301732.5:n.*63C>A
ENST00000382381.7:c.*63C>A ENSP00000371818.3:n.*63C>A
NM_001089.2:c.*63C>A NP_001080.2:n.*63C>A
NM_001089.3:c.*63C>A MANE Select NP_001080.2:n.*63C>A
Search 100 bp 5'
Search 100 bp 3'