Canonical Allele Identifier: CA2719420

Gene: LAMP3

Linked Data

• dbSNP Id: rs749135591
• ExAC: 3:182870183 C / T
• gnomAD v2: 3-182870183-C-T
• gnomAD v4: 3-183152395-C-T
• MyVariant Identifiers: chr3:g.182870183C>T (hg19) ; chr3:g.183152395C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183152395C>T , CM000665.2:g.183152395C>T	GRCh38
NC_000003.11:g.182870183C>T , CM000665.1:g.182870183C>T	GRCh37
NC_000003.10:g.184352877C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265598.8:c.868G>A MANE Select	ENSP00000265598.3:p.Val290Met
ENST00000265598.7:c.868G>A	ENSP00000265598.3:p.Val290Met
ENST00000466939.1:c.796G>A	ENSP00000418912.1:p.Val266Met
NM_014398.3:c.868G>A	NP_055213.2:p.Val290Met
XM_005247360.3:c.868G>A	XP_005247417.1:p.Val290Met
XM_006713586.2:c.796G>A	XP_006713649.1:p.Val266Met
XM_011512688.1:c.868G>A	XP_011510990.1:p.Val290Met
XR_924123.1:n.928G>A
XR_924124.1:n.928G>A
XM_005247360.5:c.868G>A	XP_005247417.1:p.Val290Met
XM_006713586.3:c.796G>A	XP_006713649.1:p.Val266Met
XM_011512688.2:c.868G>A	XP_011510990.1:p.Val290Met
XM_024453453.1:c.796G>A	XP_024309221.1:p.Val266Met
NM_014398.4:c.868G>A MANE Select	NP_055213.2:p.Val290Met