Canonical Allele Identifier: CA396375391
Gene: LCAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67939987T>C , CM000678.2:g.67939987T>C GRCh38
NC_000016.9:g.67973890T>C , CM000678.1:g.67973890T>C GRCh37
NC_000016.8:g.66531391T>C NCBI36
NG_009778.1:g.9126A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1240A>G MANE Select ENSP00000264005.5:p.Ile414Val
ENST00000264005.9:c.1240A>G ENSP00000264005.5:p.Ile414Val
ENST00000570369.5:c.243A>G
ENST00000573538.5:c.978A>G ENSP00000463220.1:n.978A>G
NM_000229.1:c.1240A>G NP_000220.1:p.Ile414Val
NM_000229.2:c.1240A>G MANE Select NP_000220.1:p.Ile414Val