Canonical Allele Identifier: CA2633848162

Gene: LCAT

Linked Data

• gnomAD v4: 16-67942848-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67942848C>G , CM000678.2:g.67942848C>G	GRCh38
NC_000016.9:g.67976751C>G , CM000678.1:g.67976751C>G	GRCh37
NC_000016.8:g.66534252C>G	NCBI36
NG_009778.1:g.6265G>C
NG_033098.1:g.30847G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264005.10:c.427+13G>C MANE Select	ENSP00000264005.5:n.427+13G>C
ENST00000264005.9:c.427+13G>C	ENSP00000264005.5:n.427+13G>C
ENST00000570369.5:c.155+13G>C
ENST00000570980.1:c.211+13G>C	ENSP00000464651.1:n.211+13G>C
ENST00000573538.5:c.70+13G>C	ENSP00000463220.1:n.70+13G>C
ENST00000573846.1:n.41+13G>C
ENST00000575277.1:n.205+13G>C
ENST00000575467.5:c.*122+13G>C	ENSP00000460653.1:n.*122+13G>C
NM_000229.1:c.427+13G>C	NP_000220.1:n.427+13G>C
NM_000229.2:c.427+13G>C MANE Select	NP_000220.1:n.427+13G>C