Canonical Allele Identifier: CA396376201
Gene: LCAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940368G>C , CM000678.2:g.67940368G>C GRCh38
NC_000016.9:g.67974271G>C , CM000678.1:g.67974271G>C GRCh37
NC_000016.8:g.66531772G>C NCBI36
NG_009778.1:g.8745C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.859C>G MANE Select ENSP00000264005.5:p.His287Asp
ENST00000264005.9:c.859C>G ENSP00000264005.5:p.His287Asp
ENST00000570369.5:c.156-294C>G
ENST00000570980.1:c.643C>G ENSP00000464651.1:p.His215Asp
ENST00000573538.5:c.597C>G ENSP00000463220.1:n.597C>G
NM_000229.1:c.859C>G NP_000220.1:p.His287Asp
NM_000229.2:c.859C>G MANE Select NP_000220.1:p.His287Asp