Canonical Allele Identifier: CA396381049
Gene: LCAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67942950A>C , CM000678.2:g.67942950A>C GRCh38
NC_000016.9:g.67976853A>C , CM000678.1:g.67976853A>C GRCh37
NC_000016.8:g.66534354A>C NCBI36
NG_009778.1:g.6163T>G
NG_033098.1:g.30745T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264005.10:c.338T>G MANE Select ENSP00000264005.5:p.Leu113Arg
ENST00000264005.9:c.338T>G ENSP00000264005.5:p.Leu113Arg
ENST00000570369.5:c.66T>G
ENST00000570980.1:c.122T>G ENSP00000464651.1:p.Leu41Arg
ENST00000575277.1:n.116T>G
ENST00000575467.5:c.*33T>G ENSP00000460653.1:n.*33T>G
NM_000229.1:c.338T>G NP_000220.1:p.Leu113Arg
NM_000229.2:c.338T>G MANE Select NP_000220.1:p.Leu113Arg