Canonical Allele Identifier: CA396376121
Gene: LCAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940334G>A , CM000678.2:g.67940334G>A GRCh38
NC_000016.9:g.67974237G>A , CM000678.1:g.67974237G>A GRCh37
NC_000016.8:g.66531738G>A NCBI36
NG_009778.1:g.8779C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.893C>T MANE Select ENSP00000264005.5:p.Thr298Ile
ENST00000264005.9:c.893C>T ENSP00000264005.5:p.Thr298Ile
ENST00000570369.5:c.156-260C>T
ENST00000570980.1:c.677C>T ENSP00000464651.1:p.Thr226Ile
ENST00000573538.5:c.631C>T ENSP00000463220.1:n.631C>T
NM_000229.1:c.893C>T NP_000220.1:p.Thr298Ile
NM_000229.2:c.893C>T MANE Select NP_000220.1:p.Thr298Ile