Canonical Allele Identifier: CA396376110
Gene: LCAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940326C>G , CM000678.2:g.67940326C>G GRCh38
NC_000016.9:g.67974229C>G , CM000678.1:g.67974229C>G GRCh37
NC_000016.8:g.66531730C>G NCBI36
NG_009778.1:g.8787G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.901G>C MANE Select ENSP00000264005.5:p.Asp301His
ENST00000264005.9:c.901G>C ENSP00000264005.5:p.Asp301His
ENST00000570369.5:c.156-252G>C
ENST00000570980.1:c.685G>C ENSP00000464651.1:p.Asp229His
ENST00000573538.5:c.639G>C ENSP00000463220.1:n.639G>C
NM_000229.1:c.901G>C NP_000220.1:p.Asp301His
NM_000229.2:c.901G>C MANE Select NP_000220.1:p.Asp301His