Canonical Allele Identifier: CA396375396
Gene: LCAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67939989T>A , CM000678.2:g.67939989T>A GRCh38
NC_000016.9:g.67973892T>A , CM000678.1:g.67973892T>A GRCh37
NC_000016.8:g.66531393T>A NCBI36
NG_009778.1:g.9124A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1238A>T MANE Select ENSP00000264005.5:p.His413Leu
ENST00000264005.9:c.1238A>T ENSP00000264005.5:p.His413Leu
ENST00000570369.5:c.241A>T
ENST00000573538.5:c.976A>T ENSP00000463220.1:n.976A>T
NM_000229.1:c.1238A>T NP_000220.1:p.His413Leu
NM_000229.2:c.1238A>T MANE Select NP_000220.1:p.His413Leu