Canonical Allele Identifier: CA396375822
Gene: LCAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940191G>C , CM000678.2:g.67940191G>C GRCh38
NC_000016.9:g.67974094G>C , CM000678.1:g.67974094G>C GRCh37
NC_000016.8:g.66531595G>C NCBI36
NG_009778.1:g.8922C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1036C>G MANE Select ENSP00000264005.5:p.Pro346Ala
ENST00000264005.9:c.1036C>G ENSP00000264005.5:p.Pro346Ala
ENST00000570369.5:c.156-117C>G
ENST00000573538.5:c.774C>G ENSP00000463220.1:n.774C>G
NM_000229.1:c.1036C>G NP_000220.1:p.Pro346Ala
NM_000229.2:c.1036C>G MANE Select NP_000220.1:p.Pro346Ala