Canonical Allele Identifier: CA396375448
Gene: LCAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940013A>G , CM000678.2:g.67940013A>G GRCh38
NC_000016.9:g.67973916A>G , CM000678.1:g.67973916A>G GRCh37
NC_000016.8:g.66531417A>G NCBI36
NG_009778.1:g.9100T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1214T>C MANE Select ENSP00000264005.5:p.Val405Ala
ENST00000264005.9:c.1214T>C ENSP00000264005.5:p.Val405Ala
ENST00000570369.5:c.217T>C
ENST00000573538.5:c.952T>C ENSP00000463220.1:n.952T>C
NM_000229.1:c.1214T>C NP_000220.1:p.Val405Ala
NM_000229.2:c.1214T>C MANE Select NP_000220.1:p.Val405Ala