Canonical Allele Identifier: CA396376430

Gene: LCAT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67940471G>C , CM000678.2:g.67940471G>C	GRCh38
NC_000016.9:g.67974374G>C , CM000678.1:g.67974374G>C	GRCh37
NC_000016.8:g.66531875G>C	NCBI36
NG_009778.1:g.8642C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000229.2:c.756C>G MANE Select	NP_000220.1:p.Asn252Lys
ENST00000264005.10:c.756C>G MANE Select	ENSP00000264005.5:p.Asn252Lys
NM_000229.1:c.756C>G	NP_000220.1:p.Asn252Lys
ENST00000264005.9:c.756C>G	ENSP00000264005.5:p.Asn252Lys
ENST00000570369.5:c.156-397C>G
ENST00000570980.1:c.540C>G	ENSP00000464651.1:p.Asn180Lys
ENST00000573538.5:c.494C>G	ENSP00000463220.1:n.494C>G