Canonical Allele Identifier: CA396380754
Gene: LCAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67942890A>C , CM000678.2:g.67942890A>C GRCh38
NC_000016.9:g.67976793A>C , CM000678.1:g.67976793A>C GRCh37
NC_000016.8:g.66534294A>C NCBI36
NG_009778.1:g.6223T>G
NG_033098.1:g.30805T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264005.10:c.398T>G MANE Select ENSP00000264005.5:p.Val133Gly
ENST00000264005.9:c.398T>G ENSP00000264005.5:p.Val133Gly
ENST00000570369.5:c.126T>G
ENST00000570980.1:c.182T>G ENSP00000464651.1:p.Val61Gly
ENST00000573538.5:c.41T>G ENSP00000463220.1:p.Val14Gly
ENST00000573846.1:n.12T>G
ENST00000575277.1:n.176T>G
ENST00000575467.5:c.*93T>G ENSP00000460653.1:n.*93T>G
NM_000229.1:c.398T>G NP_000220.1:p.Val133Gly
NM_000229.2:c.398T>G MANE Select NP_000220.1:p.Val133Gly