Canonical Allele Identifier: CA496384181
Gene: LCAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67942719G>T , CM000678.2:g.67942719G>T GRCh38
NC_000016.9:g.67976622G>T , CM000678.1:g.67976622G>T GRCh37
NC_000016.8:g.66534123G>T NCBI36
NG_009778.1:g.6394C>A
NG_033098.1:g.30976C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.475C>A MANE Select ENSP00000264005.5:p.Arg159=
ENST00000264005.9:c.475C>A ENSP00000264005.5:p.Arg159=
ENST00000570369.5:c.155+142C>A
ENST00000570980.1:c.259C>A ENSP00000464651.1:p.Arg87=
ENST00000573538.5:c.118C>A ENSP00000463220.1:p.Arg40=
ENST00000573846.1:n.89C>A
ENST00000575277.1:n.253C>A
ENST00000575467.5:c.*170C>A ENSP00000460653.1:n.*170C>A
NM_000229.1:c.475C>A NP_000220.1:p.Arg159=
NM_000229.2:c.475C>A MANE Select NP_000220.1:p.Arg159=