Canonical Allele Identifier: CA396381057
Gene: LCAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67942951G>C , CM000678.2:g.67942951G>C GRCh38
NC_000016.9:g.67976854G>C , CM000678.1:g.67976854G>C GRCh37
NC_000016.8:g.66534355G>C NCBI36
NG_009778.1:g.6162C>G
NG_033098.1:g.30744C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.337C>G MANE Select ENSP00000264005.5:p.Leu113Val
ENST00000264005.9:c.337C>G ENSP00000264005.5:p.Leu113Val
ENST00000570369.5:c.65C>G
ENST00000570980.1:c.121C>G ENSP00000464651.1:p.Leu41Val
ENST00000575277.1:n.115C>G
ENST00000575467.5:c.*32C>G ENSP00000460653.1:n.*32C>G
NM_000229.1:c.337C>G NP_000220.1:p.Leu113Val
NM_000229.2:c.337C>G MANE Select NP_000220.1:p.Leu113Val