Canonical Allele Identifier: CA493092739
Gene: ABCA3 HGNC NCBI

Linked Data

COSMIC: COSM236914
MyVariant Identifiers: chr16:g.2328324T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278323T>C , CM000678.2:g.2278323T>C GRCh38
NC_000016.9:g.2328324T>C , CM000678.1:g.2328324T>C GRCh37
NC_000016.8:g.2268325T>C NCBI36
NG_011790.1:g.67424A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4683A>G MANE Select ENSP00000301732.5:p.Arg1561=
ENST00000301732.9:c.4683A>G ENSP00000301732.5:p.Arg1561=
ENST00000382381.7:c.4509A>G ENSP00000371818.3:p.Arg1503=
ENST00000566200.1:n.1204A>G
NM_001089.2:c.4683A>G NP_001080.2:p.Arg1561=
NM_001089.3:c.4683A>G MANE Select NP_001080.2:p.Arg1561=
Search 100 bp 5'
Search 100 bp 3'