Canonical Allele Identifier: CA396375542
Gene: LCAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940056C>T , CM000678.2:g.67940056C>T GRCh38
NC_000016.9:g.67973959C>T , CM000678.1:g.67973959C>T GRCh37
NC_000016.8:g.66531460C>T NCBI36
NG_009778.1:g.9057G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1171G>A MANE Select ENSP00000264005.5:p.Val391Met
ENST00000264005.9:c.1171G>A ENSP00000264005.5:p.Val391Met
ENST00000570369.5:c.174G>A
ENST00000573538.5:c.909G>A ENSP00000463220.1:n.909G>A
NM_000229.1:c.1171G>A NP_000220.1:p.Val391Met
NM_000229.2:c.1171G>A MANE Select NP_000220.1:p.Val391Met