Canonical Allele Identifier: CA394305794
Gene: ABCA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2328356G>C (hg19) chr16:g.2278355G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278355G>C , CM000678.2:g.2278355G>C GRCh38
NC_000016.9:g.2328356G>C , CM000678.1:g.2328356G>C GRCh37
NC_000016.8:g.2268357G>C NCBI36
NG_011790.1:g.67392C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4651C>G MANE Select ENSP00000301732.5:p.Arg1551Gly
ENST00000301732.9:c.4651C>G ENSP00000301732.5:p.Arg1551Gly
ENST00000382381.7:c.4477C>G ENSP00000371818.3:p.Arg1493Gly
ENST00000566200.1:n.1172C>G
NM_001089.2:c.4651C>G NP_001080.2:p.Arg1551Gly
NM_001089.3:c.4651C>G MANE Select NP_001080.2:p.Arg1551Gly
Search 100 bp 5'
Search 100 bp 3'