Canonical Allele Identifier: CA355321470

Gene: LAMP3

Linked Data

• dbSNP Id: rs372341122
• gnomAD v2: 3-182870261-C-G
• gnomAD v4: 3-183152473-C-G
• MyVariant Identifiers: chr3:g.182870261C>G (hg19) ; chr3:g.183152473C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183152473C>G , CM000665.2:g.183152473C>G	GRCh38
NC_000003.11:g.182870261C>G , CM000665.1:g.182870261C>G	GRCh37
NC_000003.10:g.184352955C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265598.8:c.790G>C MANE Select	ENSP00000265598.3:p.Asp264His
ENST00000265598.7:c.790G>C	ENSP00000265598.3:p.Asp264His
ENST00000466939.1:c.718G>C	ENSP00000418912.1:p.Asp240His
NM_014398.3:c.790G>C	NP_055213.2:p.Asp264His
XM_005247360.3:c.790G>C	XP_005247417.1:p.Asp264His
XM_006713586.2:c.718G>C	XP_006713649.1:p.Asp240His
XM_011512688.1:c.790G>C	XP_011510990.1:p.Asp264His
XR_924123.1:n.850G>C
XR_924124.1:n.850G>C
XM_005247360.5:c.790G>C	XP_005247417.1:p.Asp264His
XM_006713586.3:c.718G>C	XP_006713649.1:p.Asp240His
XM_011512688.2:c.790G>C	XP_011510990.1:p.Asp264His
XM_024453453.1:c.718G>C	XP_024309221.1:p.Asp240His
NM_014398.4:c.790G>C MANE Select	NP_055213.2:p.Asp264His