Canonical Allele Identifier: CA396375364
Gene: LCAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67939975G>C , CM000678.2:g.67939975G>C GRCh38
NC_000016.9:g.67973878G>C , CM000678.1:g.67973878G>C GRCh37
NC_000016.8:g.66531379G>C NCBI36
NG_009778.1:g.9138C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1252C>G MANE Select ENSP00000264005.5:p.Leu418Val
ENST00000264005.9:c.1252C>G ENSP00000264005.5:p.Leu418Val
ENST00000570369.5:c.255C>G
ENST00000573538.5:c.990C>G ENSP00000463220.1:n.990C>G
NM_000229.1:c.1252C>G NP_000220.1:p.Leu418Val
NM_000229.2:c.1252C>G MANE Select NP_000220.1:p.Leu418Val