Canonical Allele Identifier: CA493361844
Gene: ABCA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2376132A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2326131A>C , CM000678.2:g.2326131A>C GRCh38
NC_000016.9:g.2376132A>C , CM000678.1:g.2376132A>C GRCh37
NC_000016.8:g.2316133A>C NCBI36
NG_011790.1:g.19616T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.198T>G MANE Select ENSP00000301732.5:p.Pro66=
ENST00000301732.9:c.198T>G ENSP00000301732.5:p.Pro66=
ENST00000382381.7:c.198T>G ENSP00000371818.3:p.Pro66=
ENST00000563623.5:n.761T>G
ENST00000567910.1:c.198T>G ENSP00000454397.1:p.Pro66=
NM_001089.2:c.198T>G NP_001080.2:p.Pro66=
NM_001089.3:c.198T>G MANE Select NP_001080.2:p.Pro66=