Canonical Allele Identifier: CA496384072
Gene: LCAT HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.67974380A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940477A>G , CM000678.2:g.67940477A>G GRCh38
NC_000016.9:g.67974380A>G , CM000678.1:g.67974380A>G GRCh37
NC_000016.8:g.66531881A>G NCBI36
NG_009778.1:g.8636T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.750T>C MANE Select ENSP00000264005.5:p.Gly250=
ENST00000264005.9:c.750T>C ENSP00000264005.5:p.Gly250=
ENST00000570369.5:c.156-403T>C
ENST00000570980.1:c.534T>C ENSP00000464651.1:p.Gly178=
ENST00000573538.5:c.488T>C ENSP00000463220.1:n.488T>C
NM_000229.1:c.750T>C NP_000220.1:p.Gly250=
NM_000229.2:c.750T>C MANE Select NP_000220.1:p.Gly250=