Canonical Allele Identifier: CA978461328

Gene: LCAT

Linked Data

• dbSNP Id: rs2058299349
• gnomAD v3: 16-67942782-C-A
• gnomAD v4: 16-67942782-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67942782C>A , CM000678.2:g.67942782C>A	GRCh38
NC_000016.9:g.67976685C>A , CM000678.1:g.67976685C>A	GRCh37
NC_000016.8:g.66534186C>A	NCBI36
NG_009778.1:g.6331G>T
NG_033098.1:g.30913G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.428-16G>T MANE Select	ENSP00000264005.5:n.428-16G>T
ENST00000264005.9:c.428-16G>T	ENSP00000264005.5:n.428-16G>T
ENST00000570369.5:c.155+79G>T
ENST00000570980.1:c.212-16G>T	ENSP00000464651.1:n.212-16G>T
ENST00000573538.5:c.71-16G>T	ENSP00000463220.1:n.71-16G>T
ENST00000573846.1:n.42-16G>T
ENST00000575277.1:n.206-16G>T
ENST00000575467.5:c.*123-16G>T	ENSP00000460653.1:n.*123-16G>T
NM_000229.1:c.428-16G>T	NP_000220.1:n.428-16G>T
NM_000229.2:c.428-16G>T MANE Select	NP_000220.1:n.428-16G>T