Canonical Allele Identifier: CA396376214
Gene: LCAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940373T>G , CM000678.2:g.67940373T>G GRCh38
NC_000016.9:g.67974276T>G , CM000678.1:g.67974276T>G GRCh37
NC_000016.8:g.66531777T>G NCBI36
NG_009778.1:g.8740A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.854A>C MANE Select ENSP00000264005.5:p.Glu285Ala
ENST00000264005.9:c.854A>C ENSP00000264005.5:p.Glu285Ala
ENST00000570369.5:c.156-299A>C
ENST00000570980.1:c.638A>C ENSP00000464651.1:p.Glu213Ala
ENST00000573538.5:c.592A>C ENSP00000463220.1:n.592A>C
NM_000229.1:c.854A>C NP_000220.1:p.Glu285Ala
NM_000229.2:c.854A>C MANE Select NP_000220.1:p.Glu285Ala