Canonical Allele Identifier: CA396376394
Gene: LCAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940455T>C , CM000678.2:g.67940455T>C GRCh38
NC_000016.9:g.67974358T>C , CM000678.1:g.67974358T>C GRCh37
NC_000016.8:g.66531859T>C NCBI36
NG_009778.1:g.8658A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.772A>G MANE Select ENSP00000264005.5:p.Met258Val
ENST00000264005.9:c.772A>G ENSP00000264005.5:p.Met258Val
ENST00000570369.5:c.156-381A>G
ENST00000570980.1:c.556A>G ENSP00000464651.1:p.Met186Val
ENST00000573538.5:c.510A>G ENSP00000463220.1:n.510A>G
NM_000229.1:c.772A>G NP_000220.1:p.Met258Val
NM_000229.2:c.772A>G MANE Select NP_000220.1:p.Met258Val