Canonical Allele Identifier: CA394306304
Gene: ABCA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2328455C>G (hg19) chr16:g.2278454C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278454C>G , CM000678.2:g.2278454C>G GRCh38
NC_000016.9:g.2328455C>G , CM000678.1:g.2328455C>G GRCh37
NC_000016.8:g.2268456C>G NCBI36
NG_011790.1:g.67293G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4552G>C MANE Select ENSP00000301732.5:p.Gly1518Arg
ENST00000301732.9:c.4552G>C ENSP00000301732.5:p.Gly1518Arg
ENST00000382381.7:c.4378G>C ENSP00000371818.3:p.Gly1460Arg
ENST00000566200.1:n.1073G>C
NM_001089.2:c.4552G>C NP_001080.2:p.Gly1518Arg
NM_001089.3:c.4552G>C MANE Select NP_001080.2:p.Gly1518Arg
Search 100 bp 5'
Search 100 bp 3'