Canonical Allele Identifier: CA355321410

Gene: LAMP3

Linked Data

• dbSNP Id: rs1389657240
• gnomAD v2: 3-182870231-A-T
• gnomAD v4: 3-183152443-A-T
• MyVariant Identifiers: chr3:g.182870231A>T (hg19) ; chr3:g.183152443A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183152443A>T , CM000665.2:g.183152443A>T	GRCh38
NC_000003.11:g.182870231A>T , CM000665.1:g.182870231A>T	GRCh37
NC_000003.10:g.184352925A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265598.8:c.820T>A MANE Select	ENSP00000265598.3:p.Cys274Ser
ENST00000265598.7:c.820T>A	ENSP00000265598.3:p.Cys274Ser
ENST00000466939.1:c.748T>A	ENSP00000418912.1:p.Cys250Ser
NM_014398.3:c.820T>A	NP_055213.2:p.Cys274Ser
XM_005247360.3:c.820T>A	XP_005247417.1:p.Cys274Ser
XM_006713586.2:c.748T>A	XP_006713649.1:p.Cys250Ser
XM_011512688.1:c.820T>A	XP_011510990.1:p.Cys274Ser
XR_924123.1:n.880T>A
XR_924124.1:n.880T>A
XM_005247360.5:c.820T>A	XP_005247417.1:p.Cys274Ser
XM_006713586.3:c.748T>A	XP_006713649.1:p.Cys250Ser
XM_011512688.2:c.820T>A	XP_011510990.1:p.Cys274Ser
XM_024453453.1:c.748T>A	XP_024309221.1:p.Cys250Ser
NM_014398.4:c.820T>A MANE Select	NP_055213.2:p.Cys274Ser