Canonical Allele Identifier: CA2842946973
Gene: LCAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67943007G>T , CM000678.2:g.67943007G>T GRCh38
NC_000016.9:g.67976910G>T , CM000678.1:g.67976910G>T GRCh37
NC_000016.8:g.66534411G>T NCBI36
NG_009778.1:g.6106C>A
NG_033098.1:g.30688C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.312-31C>A MANE Select ENSP00000264005.5:n.312-31C>A
ENST00000264005.9:c.312-31C>A ENSP00000264005.5:n.312-31C>A
ENST00000570369.5:c.40-31C>A
ENST00000570980.1:c.96-31C>A ENSP00000464651.1:n.96-31C>A
ENST00000575277.1:n.90-31C>A
ENST00000575467.5:c.*7-31C>A ENSP00000460653.1:n.*7-31C>A
NM_000229.1:c.312-31C>A NP_000220.1:n.312-31C>A
NM_000229.2:c.312-31C>A MANE Select NP_000220.1:n.312-31C>A