Canonical Allele Identifier: CA396375520
Gene: LCAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940046A>C , CM000678.2:g.67940046A>C GRCh38
NC_000016.9:g.67973949A>C , CM000678.1:g.67973949A>C GRCh37
NC_000016.8:g.66531450A>C NCBI36
NG_009778.1:g.9067T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1181T>G MANE Select ENSP00000264005.5:p.Leu394Arg
ENST00000264005.9:c.1181T>G ENSP00000264005.5:p.Leu394Arg
ENST00000570369.5:c.184T>G
ENST00000573538.5:c.919T>G ENSP00000463220.1:n.919T>G
NM_000229.1:c.1181T>G NP_000220.1:p.Leu394Arg
NM_000229.2:c.1181T>G MANE Select NP_000220.1:p.Leu394Arg