Canonical Allele Identifier: CA396376416
Gene: LCAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940466C>G , CM000678.2:g.67940466C>G GRCh38
NC_000016.9:g.67974369C>G , CM000678.1:g.67974369C>G GRCh37
NC_000016.8:g.66531870C>G NCBI36
NG_009778.1:g.8647G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.761G>C MANE Select ENSP00000264005.5:p.Gly254Ala
ENST00000264005.9:c.761G>C ENSP00000264005.5:p.Gly254Ala
ENST00000570369.5:c.156-392G>C
ENST00000570980.1:c.545G>C ENSP00000464651.1:p.Gly182Ala
ENST00000573538.5:c.499G>C ENSP00000463220.1:n.499G>C
NM_000229.1:c.761G>C NP_000220.1:p.Gly254Ala
NM_000229.2:c.761G>C MANE Select NP_000220.1:p.Gly254Ala