Canonical Allele Identifier: CA396375386
Gene: LCAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67939985G>C , CM000678.2:g.67939985G>C GRCh38
NC_000016.9:g.67973888G>C , CM000678.1:g.67973888G>C GRCh37
NC_000016.8:g.66531389G>C NCBI36
NG_009778.1:g.9128C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1242C>G MANE Select ENSP00000264005.5:p.Ile414Met
ENST00000264005.9:c.1242C>G ENSP00000264005.5:p.Ile414Met
ENST00000570369.5:c.245C>G
ENST00000573538.5:c.980C>G ENSP00000463220.1:n.980C>G
NM_000229.1:c.1242C>G NP_000220.1:p.Ile414Met
NM_000229.2:c.1242C>G MANE Select NP_000220.1:p.Ile414Met