Canonical Allele Identifier: CA2719435

Gene: LAMP3

Linked Data

• ClinVar Variation Id: 2409292
• ClinVar RCV Id: RCV004245222
• dbSNP Id: rs151059567
• ExAC: 3:182870248 G / A
• gnomAD v2: 3-182870248-G-A
• gnomAD v3: 3-183152460-G-A
• gnomAD v4: 3-183152460-G-A
• COSMIC: COSM1421186
• MyVariant Identifiers: chr3:g.182870248G>A (hg19) ; chr3:g.183152460G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183152460G>A , CM000665.2:g.183152460G>A	GRCh38
NC_000003.11:g.182870248G>A , CM000665.1:g.182870248G>A	GRCh37
NC_000003.10:g.184352942G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265598.8:c.803C>T MANE Select	ENSP00000265598.3:p.Thr268Met
ENST00000265598.7:c.803C>T	ENSP00000265598.3:p.Thr268Met
ENST00000466939.1:c.731C>T	ENSP00000418912.1:p.Thr244Met
NM_014398.3:c.803C>T	NP_055213.2:p.Thr268Met
XM_005247360.3:c.803C>T	XP_005247417.1:p.Thr268Met
XM_006713586.2:c.731C>T	XP_006713649.1:p.Thr244Met
XM_011512688.1:c.803C>T	XP_011510990.1:p.Thr268Met
XR_924123.1:n.863C>T
XR_924124.1:n.863C>T
XM_005247360.5:c.803C>T	XP_005247417.1:p.Thr268Met
XM_006713586.3:c.731C>T	XP_006713649.1:p.Thr244Met
XM_011512688.2:c.803C>T	XP_011510990.1:p.Thr268Met
XM_024453453.1:c.731C>T	XP_024309221.1:p.Thr244Met
NM_014398.4:c.803C>T MANE Select	NP_055213.2:p.Thr268Met