Canonical Allele Identifier: CA396376365
Gene: LCAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940443T>G , CM000678.2:g.67940443T>G GRCh38
NC_000016.9:g.67974346T>G , CM000678.1:g.67974346T>G GRCh37
NC_000016.8:g.66531847T>G NCBI36
NG_009778.1:g.8670A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.784A>C MANE Select ENSP00000264005.5:p.Lys262Gln
ENST00000264005.9:c.784A>C ENSP00000264005.5:p.Lys262Gln
ENST00000570369.5:c.156-369A>C
ENST00000570980.1:c.568A>C ENSP00000464651.1:p.Lys190Gln
ENST00000573538.5:c.522A>C ENSP00000463220.1:n.522A>C
NM_000229.1:c.784A>C NP_000220.1:p.Lys262Gln
NM_000229.2:c.784A>C MANE Select NP_000220.1:p.Lys262Gln