Canonical Allele Identifier: CA396376005
Gene: LCAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940282C>G , CM000678.2:g.67940282C>G GRCh38
NC_000016.9:g.67974185C>G , CM000678.1:g.67974185C>G GRCh37
NC_000016.8:g.66531686C>G NCBI36
NG_009778.1:g.8831G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.945G>C MANE Select ENSP00000264005.5:p.Trp315Cys
ENST00000264005.9:c.945G>C ENSP00000264005.5:p.Trp315Cys
ENST00000570369.5:c.156-208G>C
ENST00000570980.1:c.729G>C ENSP00000464651.1:p.Trp243Cys
ENST00000573538.5:c.683G>C ENSP00000463220.1:n.683G>C
NM_000229.1:c.945G>C NP_000220.1:p.Trp315Cys
NM_000229.2:c.945G>C MANE Select NP_000220.1:p.Trp315Cys