Canonical Allele Identifier: CA396376288
Gene: LCAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940406G>T , CM000678.2:g.67940406G>T GRCh38
NC_000016.9:g.67974309G>T , CM000678.1:g.67974309G>T GRCh37
NC_000016.8:g.66531810G>T NCBI36
NG_009778.1:g.8707C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.821C>A MANE Select ENSP00000264005.5:p.Pro274His
ENST00000264005.9:c.821C>A ENSP00000264005.5:p.Pro274His
ENST00000570369.5:c.156-332C>A
ENST00000570980.1:c.605C>A ENSP00000464651.1:p.Pro202His
ENST00000573538.5:c.559C>A ENSP00000463220.1:n.559C>A
NM_000229.1:c.821C>A NP_000220.1:p.Pro274His
NM_000229.2:c.821C>A MANE Select NP_000220.1:p.Pro274His