Canonical Allele Identifier: CA396375366
Gene: LCAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67939976G>C , CM000678.2:g.67939976G>C GRCh38
NC_000016.9:g.67973879G>C , CM000678.1:g.67973879G>C GRCh37
NC_000016.8:g.66531380G>C NCBI36
NG_009778.1:g.9137C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1251C>G MANE Select ENSP00000264005.5:p.Ile417Met
ENST00000264005.9:c.1251C>G ENSP00000264005.5:p.Ile417Met
ENST00000570369.5:c.254C>G
ENST00000573538.5:c.989C>G ENSP00000463220.1:n.989C>G
NM_000229.1:c.1251C>G NP_000220.1:p.Ile417Met
NM_000229.2:c.1251C>G MANE Select NP_000220.1:p.Ile417Met