Canonical Allele Identifier: CA394305541
Gene: ABCA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2328314T>A (hg19) chr16:g.2278313T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278313T>A , CM000678.2:g.2278313T>A GRCh38
NC_000016.9:g.2328314T>A , CM000678.1:g.2328314T>A GRCh37
NC_000016.8:g.2268315T>A NCBI36
NG_011790.1:g.67434A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4693A>T MANE Select ENSP00000301732.5:p.Lys1565Ter
ENST00000301732.9:c.4693A>T ENSP00000301732.5:p.Lys1565Ter
ENST00000382381.7:c.4519A>T ENSP00000371818.3:p.Lys1507Ter
ENST00000566200.1:n.1214A>T
NM_001089.2:c.4693A>T NP_001080.2:p.Lys1565Ter
NM_001089.3:c.4693A>T MANE Select NP_001080.2:p.Lys1565Ter
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