Canonical Allele Identifier: CA396380775
Gene: LCAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67942895G>T , CM000678.2:g.67942895G>T GRCh38
NC_000016.9:g.67976798G>T , CM000678.1:g.67976798G>T GRCh37
NC_000016.8:g.66534299G>T NCBI36
NG_009778.1:g.6218C>A
NG_033098.1:g.30800C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264005.10:c.393C>A MANE Select ENSP00000264005.5:p.Tyr131Ter
ENST00000264005.9:c.393C>A ENSP00000264005.5:p.Tyr131Ter
ENST00000570369.5:c.121C>A
ENST00000570980.1:c.177C>A ENSP00000464651.1:p.Tyr59Ter
ENST00000573538.5:c.36C>A ENSP00000463220.1:p.Tyr12Ter
ENST00000573846.1:n.7C>A
ENST00000575277.1:n.171C>A
ENST00000575467.5:c.*88C>A ENSP00000460653.1:n.*88C>A
NM_000229.1:c.393C>A NP_000220.1:p.Tyr131Ter
NM_000229.2:c.393C>A MANE Select NP_000220.1:p.Tyr131Ter