Canonical Allele Identifier: CA493361748
Gene: ABCA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2376105T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2326104T>C , CM000678.2:g.2326104T>C GRCh38
NC_000016.9:g.2376105T>C , CM000678.1:g.2376105T>C GRCh37
NC_000016.8:g.2316106T>C NCBI36
NG_011790.1:g.19643A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.225A>G MANE Select ENSP00000301732.5:p.Gly75=
ENST00000301732.9:c.225A>G ENSP00000301732.5:p.Gly75=
ENST00000382381.7:c.225A>G ENSP00000371818.3:p.Gly75=
ENST00000563623.5:n.788A>G
ENST00000567910.1:c.225A>G ENSP00000454397.1:p.Gly75=
NM_001089.2:c.225A>G NP_001080.2:p.Gly75=
NM_001089.3:c.225A>G MANE Select NP_001080.2:p.Gly75=