Canonical Allele Identifier: CA2719418

Gene: LAMP3

Linked Data

• dbSNP Id: rs759833488
• ExAC: 3:182870173 G / GT
• gnomAD v2: 3-182870173-G-GT
• gnomAD v4: 3-183152385-G-GT
• MyVariant Identifiers: chr3:g.182870173_182870174insT (hg19) ; chr3:g.183152385_183152386insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183152386dup , CM000665.2:g.183152386dup	GRCh38
NC_000003.11:g.182870174dup , CM000665.1:g.182870174dup	GRCh37
NC_000003.10:g.184352868dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265598.8:c.877dup MANE Select	ENSP00000265598.3:p.Thr293AsnfsTer6
ENST00000265598.7:c.877dup	ENSP00000265598.3:p.Thr293AsnfsTer6
ENST00000466939.1:c.805dup	ENSP00000418912.1:p.Thr269AsnfsTer6
NM_014398.3:c.877dup	NP_055213.2:p.Thr293AsnfsTer6
XM_005247360.3:c.877dup	XP_005247417.1:p.Thr293AsnfsTer6
XM_006713586.2:c.805dup	XP_006713649.1:p.Thr269AsnfsTer6
XM_011512688.1:c.877dup	XP_011510990.1:p.Thr293AsnfsTer6
XR_924123.1:n.937dup
XR_924124.1:n.937dup
XM_005247360.5:c.877dup	XP_005247417.1:p.Thr293AsnfsTer6
XM_006713586.3:c.805dup	XP_006713649.1:p.Thr269AsnfsTer6
XM_011512688.2:c.877dup	XP_011510990.1:p.Thr293AsnfsTer6
XM_024453453.1:c.805dup	XP_024309221.1:p.Thr269AsnfsTer6
NM_014398.4:c.877dup MANE Select	NP_055213.2:p.Thr293AsnfsTer6