Canonical Allele Identifier: CA11389229

Gene: LAMP3

Linked Data

• dbSNP Id: rs514636
• gnomAD v2: 3-182870436-G-A
• gnomAD v3: 3-183152648-G-A
• gnomAD v4: 3-183152648-G-A
• MyVariant Identifiers: chr3:g.182870436G>A (hg19) ; chr3:g.183152648G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183152648G>A , CM000665.2:g.183152648G>A	GRCh38
NC_000003.11:g.182870436G>A , CM000665.1:g.182870436G>A	GRCh37
NC_000003.10:g.184353130G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000265598.8:c.760-145C>T MANE Select	ENSP00000265598.3:n.760-145C>T
ENST00000265598.7:c.760-145C>T	ENSP00000265598.3:n.760-145C>T
ENST00000466939.1:c.688-145C>T	ENSP00000418912.1:n.688-145C>T
NM_014398.3:c.760-145C>T	NP_055213.2:n.760-145C>T
XM_005247360.3:c.760-145C>T	XP_005247417.1:n.760-145C>T
XM_006713586.2:c.688-145C>T	XP_006713649.1:n.688-145C>T
XM_011512688.1:c.760-145C>T	XP_011510990.1:n.760-145C>T
XR_924123.1:n.820-145C>T
XR_924124.1:n.820-145C>T
XM_005247360.5:c.760-145C>T	XP_005247417.1:n.760-145C>T
XM_006713586.3:c.688-145C>T	XP_006713649.1:n.688-145C>T
XM_011512688.2:c.760-145C>T	XP_011510990.1:n.760-145C>T
XM_024453453.1:c.688-145C>T	XP_024309221.1:n.688-145C>T
NM_014398.4:c.760-145C>T MANE Select	NP_055213.2:n.760-145C>T