Canonical Allele Identifier: CA396376030
Gene: LCAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940292T>G , CM000678.2:g.67940292T>G GRCh38
NC_000016.9:g.67974195T>G , CM000678.1:g.67974195T>G GRCh37
NC_000016.8:g.66531696T>G NCBI36
NG_009778.1:g.8821A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264005.10:c.935A>C MANE Select ENSP00000264005.5:p.Glu312Ala
ENST00000264005.9:c.935A>C ENSP00000264005.5:p.Glu312Ala
ENST00000570369.5:c.156-218A>C
ENST00000570980.1:c.719A>C ENSP00000464651.1:p.Glu240Ala
ENST00000573538.5:c.673A>C ENSP00000463220.1:n.673A>C
NM_000229.1:c.935A>C NP_000220.1:p.Glu312Ala
NM_000229.2:c.935A>C MANE Select NP_000220.1:p.Glu312Ala