Canonical Allele Identifier: CA396376038
Gene: LCAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940296A>C , CM000678.2:g.67940296A>C GRCh38
NC_000016.9:g.67974199A>C , CM000678.1:g.67974199A>C GRCh37
NC_000016.8:g.66531700A>C NCBI36
NG_009778.1:g.8817T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264005.10:c.931T>G MANE Select ENSP00000264005.5:p.Phe311Val
ENST00000264005.9:c.931T>G ENSP00000264005.5:p.Phe311Val
ENST00000570369.5:c.156-222T>G
ENST00000570980.1:c.715T>G ENSP00000464651.1:p.Phe239Val
ENST00000573538.5:c.669T>G ENSP00000463220.1:n.669T>G
NM_000229.1:c.931T>G NP_000220.1:p.Phe311Val
NM_000229.2:c.931T>G MANE Select NP_000220.1:p.Phe311Val