Canonical Allele Identifier: CA394305403
Gene: ABCA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2328293G>C (hg19) chr16:g.2278292G>C (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4714C>G MANE Select ENSP00000301732.5:p.His1572Asp
ENST00000301732.9:c.4714C>G ENSP00000301732.5:p.His1572Asp
ENST00000382381.7:c.4540C>G ENSP00000371818.3:p.His1514Asp
NM_001089.2:c.4714C>G NP_001080.2:p.His1572Asp
NM_001089.3:c.4714C>G MANE Select NP_001080.2:p.His1572Asp
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