Canonical Allele Identifier: CA496384131
Gene: LCAT HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.67974215G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940312G>A , CM000678.2:g.67940312G>A GRCh38
NC_000016.9:g.67974215G>A , CM000678.1:g.67974215G>A GRCh37
NC_000016.8:g.66531716G>A NCBI36
NG_009778.1:g.8801C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.915C>T MANE Select ENSP00000264005.5:p.Phe305=
ENST00000264005.9:c.915C>T ENSP00000264005.5:p.Phe305=
ENST00000570369.5:c.156-238C>T
ENST00000570980.1:c.699C>T ENSP00000464651.1:p.Phe233=
ENST00000573538.5:c.653C>T ENSP00000463220.1:n.653C>T
NM_000229.1:c.915C>T NP_000220.1:p.Phe305=
NM_000229.2:c.915C>T MANE Select NP_000220.1:p.Phe305=