Canonical Allele Identifier: CA2719430

Gene: LAMP3

Linked Data

• dbSNP Id: rs762252248
• ExAC: 3:182870228 C / T
• gnomAD v2: 3-182870228-C-T
• gnomAD v4: 3-183152440-C-T
• MyVariant Identifiers: chr3:g.182870228C>T (hg19) ; chr3:g.183152440C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183152440C>T , CM000665.2:g.183152440C>T	GRCh38
NC_000003.11:g.182870228C>T , CM000665.1:g.182870228C>T	GRCh37
NC_000003.10:g.184352922C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265598.8:c.823G>A MANE Select	ENSP00000265598.3:p.Gly275Ser
ENST00000265598.7:c.823G>A	ENSP00000265598.3:p.Gly275Ser
ENST00000466939.1:c.751G>A	ENSP00000418912.1:p.Gly251Ser
NM_014398.3:c.823G>A	NP_055213.2:p.Gly275Ser
XM_005247360.3:c.823G>A	XP_005247417.1:p.Gly275Ser
XM_006713586.2:c.751G>A	XP_006713649.1:p.Gly251Ser
XM_011512688.1:c.823G>A	XP_011510990.1:p.Gly275Ser
XR_924123.1:n.883G>A
XR_924124.1:n.883G>A
XM_005247360.5:c.823G>A	XP_005247417.1:p.Gly275Ser
XM_006713586.3:c.751G>A	XP_006713649.1:p.Gly251Ser
XM_011512688.2:c.823G>A	XP_011510990.1:p.Gly275Ser
XM_024453453.1:c.751G>A	XP_024309221.1:p.Gly251Ser
NM_014398.4:c.823G>A MANE Select	NP_055213.2:p.Gly275Ser