Canonical Allele Identifier: CA396380408
Gene: LCAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67942757T>C , CM000678.2:g.67942757T>C GRCh38
NC_000016.9:g.67976660T>C , CM000678.1:g.67976660T>C GRCh37
NC_000016.8:g.66534161T>C NCBI36
NG_009778.1:g.6356A>G
NG_033098.1:g.30938A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.437A>G MANE Select ENSP00000264005.5:p.His146Arg
ENST00000264005.9:c.437A>G ENSP00000264005.5:p.His146Arg
ENST00000570369.5:c.155+104A>G
ENST00000570980.1:c.221A>G ENSP00000464651.1:p.His74Arg
ENST00000573538.5:c.80A>G ENSP00000463220.1:p.His27Arg
ENST00000573846.1:n.51A>G
ENST00000575277.1:n.215A>G
ENST00000575467.5:c.*132A>G ENSP00000460653.1:n.*132A>G
NM_000229.1:c.437A>G NP_000220.1:p.His146Arg
NM_000229.2:c.437A>G MANE Select NP_000220.1:p.His146Arg