Canonical Allele Identifier: CA88719844

Gene: LAMP3

Linked Data

• dbSNP Id: rs140974816
• gnomAD v3: 3-183152415-A-C
• gnomAD v4: 3-183152415-A-C
• MyVariant Identifiers: chr3:g.182870203A>C (hg19) ; chr3:g.183152415A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183152415A>C , CM000665.2:g.183152415A>C	GRCh38
NC_000003.11:g.182870203A>C , CM000665.1:g.182870203A>C	GRCh37
NC_000003.10:g.184352897A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265598.8:c.848T>G MANE Select	ENSP00000265598.3:p.Leu283Trp
ENST00000265598.7:c.848T>G	ENSP00000265598.3:p.Leu283Trp
ENST00000466939.1:c.776T>G	ENSP00000418912.1:p.Leu259Trp
NM_014398.3:c.848T>G	NP_055213.2:p.Leu283Trp
XM_005247360.3:c.848T>G	XP_005247417.1:p.Leu283Trp
XM_006713586.2:c.776T>G	XP_006713649.1:p.Leu259Trp
XM_011512688.1:c.848T>G	XP_011510990.1:p.Leu283Trp
XR_924123.1:n.908T>G
XR_924124.1:n.908T>G
XM_005247360.5:c.848T>G	XP_005247417.1:p.Leu283Trp
XM_006713586.3:c.776T>G	XP_006713649.1:p.Leu259Trp
XM_011512688.2:c.848T>G	XP_011510990.1:p.Leu283Trp
XM_024453453.1:c.776T>G	XP_024309221.1:p.Leu259Trp
NM_014398.4:c.848T>G MANE Select	NP_055213.2:p.Leu283Trp