Canonical Allele Identifier: CA88719877

Gene: LAMP3

Linked Data

• ClinVar Variation Id: 2334937
• ClinVar RCV Id: RCV004175647
• dbSNP Id: rs148986218
• gnomAD v4: 3-183152449-C-T
• MyVariant Identifiers: chr3:g.182870237C>T (hg19) ; chr3:g.183152449C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183152449C>T , CM000665.2:g.183152449C>T	GRCh38
NC_000003.11:g.182870237C>T , CM000665.1:g.182870237C>T	GRCh37
NC_000003.10:g.184352931C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265598.8:c.814G>A MANE Select	ENSP00000265598.3:p.Gly272Arg
ENST00000265598.7:c.814G>A	ENSP00000265598.3:p.Gly272Arg
ENST00000466939.1:c.742G>A	ENSP00000418912.1:p.Gly248Arg
NM_014398.3:c.814G>A	NP_055213.2:p.Gly272Arg
XM_005247360.3:c.814G>A	XP_005247417.1:p.Gly272Arg
XM_006713586.2:c.742G>A	XP_006713649.1:p.Gly248Arg
XM_011512688.1:c.814G>A	XP_011510990.1:p.Gly272Arg
XR_924123.1:n.874G>A
XR_924124.1:n.874G>A
XM_005247360.5:c.814G>A	XP_005247417.1:p.Gly272Arg
XM_006713586.3:c.742G>A	XP_006713649.1:p.Gly248Arg
XM_011512688.2:c.814G>A	XP_011510990.1:p.Gly272Arg
XM_024453453.1:c.742G>A	XP_024309221.1:p.Gly248Arg
NM_014398.4:c.814G>A MANE Select	NP_055213.2:p.Gly272Arg