Canonical Allele Identifier: CA496384054
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs1455287799

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940438C>T , CM000678.2:g.67940438C>T GRCh38
NC_000016.9:g.67974341C>T , CM000678.1:g.67974341C>T GRCh37
NC_000016.8:g.66531842C>T NCBI36
NG_009778.1:g.8675G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.789G>A MANE Select ENSP00000264005.5:p.Leu263=
ENST00000264005.9:c.789G>A ENSP00000264005.5:p.Leu263=
ENST00000570369.5:c.156-364G>A
ENST00000570980.1:c.573G>A ENSP00000464651.1:p.Leu191=
ENST00000573538.5:c.527G>A ENSP00000463220.1:n.527G>A
NM_000229.1:c.789G>A NP_000220.1:p.Leu263=
NM_000229.2:c.789G>A MANE Select NP_000220.1:p.Leu263=