Canonical Allele Identifier: CA437096233

Gene: LAMP3

Linked Data

• dbSNP Id: rs1720666444
• gnomAD v3: 3-183152420-A-G
• gnomAD v4: 3-183152420-A-G
• COSMIC: COSM479766
• MyVariant Identifiers: chr3:g.182870208A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183152420A>G , CM000665.2:g.183152420A>G	GRCh38
NC_000003.11:g.182870208A>G , CM000665.1:g.182870208A>G	GRCh37
NC_000003.10:g.184352902A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265598.8:c.843T>C MANE Select	ENSP00000265598.3:p.Leu281=
ENST00000265598.7:c.843T>C	ENSP00000265598.3:p.Leu281=
ENST00000466939.1:c.771T>C	ENSP00000418912.1:p.Leu257=
NM_014398.3:c.843T>C	NP_055213.2:p.Leu281=
XM_005247360.3:c.843T>C	XP_005247417.1:p.Leu281=
XM_006713586.2:c.771T>C	XP_006713649.1:p.Leu257=
XM_011512688.1:c.843T>C	XP_011510990.1:p.Leu281=
XR_924123.1:n.903T>C
XR_924124.1:n.903T>C
XM_005247360.5:c.843T>C	XP_005247417.1:p.Leu281=
XM_006713586.3:c.771T>C	XP_006713649.1:p.Leu257=
XM_011512688.2:c.843T>C	XP_011510990.1:p.Leu281=
XM_024453453.1:c.771T>C	XP_024309221.1:p.Leu257=
NM_014398.4:c.843T>C MANE Select	NP_055213.2:p.Leu281=