Canonical Allele Identifier: CA493093607
Gene: ABCA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2328378A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278377A>C , CM000678.2:g.2278377A>C GRCh38
NC_000016.9:g.2328378A>C , CM000678.1:g.2328378A>C GRCh37
NC_000016.8:g.2268379A>C NCBI36
NG_011790.1:g.67370T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4629T>G MANE Select ENSP00000301732.5:p.Thr1543=
ENST00000301732.9:c.4629T>G ENSP00000301732.5:p.Thr1543=
ENST00000382381.7:c.4455T>G ENSP00000371818.3:p.Thr1485=
ENST00000566200.1:n.1150T>G
NM_001089.2:c.4629T>G NP_001080.2:p.Thr1543=
NM_001089.3:c.4629T>G MANE Select NP_001080.2:p.Thr1543=
Search 100 bp 5'
Search 100 bp 3'