Canonical Allele Identifier: CA493092347
Gene: ABCA3 HGNC NCBI

Linked Data

gnomAD v4: 16-2278296-G-T
COSMIC: COSM5651388
MyVariant Identifiers: chr16:g.2328297G>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278296G>T , CM000678.2:g.2278296G>T GRCh38
NC_000016.9:g.2328297G>T , CM000678.1:g.2328297G>T GRCh37
NC_000016.8:g.2268298G>T NCBI36
NG_011790.1:g.67451C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4710C>A MANE Select ENSP00000301732.5:p.Thr1570=
ENST00000301732.9:c.4710C>A ENSP00000301732.5:p.Thr1570=
ENST00000382381.7:c.4536C>A ENSP00000371818.3:p.Thr1512=
ENST00000566200.1:n.1231C>A
NM_001089.2:c.4710C>A NP_001080.2:p.Thr1570=
NM_001089.3:c.4710C>A MANE Select NP_001080.2:p.Thr1570=
Search 100 bp 5'
Search 100 bp 3'