Canonical Allele Identifier: CA396376048

Gene: LCAT

Linked Data

• MyVariant Identifiers: chr16:g.67974202G>T (hg19) ; chr16:g.67940299G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67940299G>T , CM000678.2:g.67940299G>T	GRCh38
NC_000016.9:g.67974202G>T , CM000678.1:g.67974202G>T	GRCh37
NC_000016.8:g.66531703G>T	NCBI36
NG_009778.1:g.8814C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.928C>A MANE Select	ENSP00000264005.5:p.His310Asn
ENST00000264005.9:c.928C>A	ENSP00000264005.5:p.His310Asn
ENST00000570369.5:c.156-225C>A
ENST00000570980.1:c.712C>A	ENSP00000464651.1:p.His238Asn
ENST00000573538.5:c.666C>A	ENSP00000463220.1:n.666C>A
NM_000229.1:c.928C>A	NP_000220.1:p.His310Asn
NM_000229.2:c.928C>A MANE Select	NP_000220.1:p.His310Asn