Canonical Allele Identifier: CA396375394
Gene: LCAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67939988G>T , CM000678.2:g.67939988G>T GRCh38
NC_000016.9:g.67973891G>T , CM000678.1:g.67973891G>T GRCh37
NC_000016.8:g.66531392G>T NCBI36
NG_009778.1:g.9125C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1239C>A MANE Select ENSP00000264005.5:p.His413Gln
ENST00000264005.9:c.1239C>A ENSP00000264005.5:p.His413Gln
ENST00000570369.5:c.242C>A
ENST00000573538.5:c.977C>A ENSP00000463220.1:n.977C>A
NM_000229.1:c.1239C>A NP_000220.1:p.His413Gln
NM_000229.2:c.1239C>A MANE Select NP_000220.1:p.His413Gln