Canonical Allele Identifier: CA2719419

Gene: LAMP3

Linked Data

• dbSNP Id: rs777635863
• ExAC: 3:182870177 G / A
• gnomAD v2: 3-182870177-G-A
• gnomAD v3: 3-183152389-G-A
• gnomAD v4: 3-183152389-G-A
• MyVariant Identifiers: chr3:g.182870177G>A (hg19) ; chr3:g.183152389G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183152389G>A , CM000665.2:g.183152389G>A	GRCh38
NC_000003.11:g.182870177G>A , CM000665.1:g.182870177G>A	GRCh37
NC_000003.10:g.184352871G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265598.8:c.874C>T MANE Select	ENSP00000265598.3:p.Leu292Phe
ENST00000265598.7:c.874C>T	ENSP00000265598.3:p.Leu292Phe
ENST00000466939.1:c.802C>T	ENSP00000418912.1:p.Leu268Phe
NM_014398.3:c.874C>T	NP_055213.2:p.Leu292Phe
XM_005247360.3:c.874C>T	XP_005247417.1:p.Leu292Phe
XM_006713586.2:c.802C>T	XP_006713649.1:p.Leu268Phe
XM_011512688.1:c.874C>T	XP_011510990.1:p.Leu292Phe
XR_924123.1:n.934C>T
XR_924124.1:n.934C>T
XM_005247360.5:c.874C>T	XP_005247417.1:p.Leu292Phe
XM_006713586.3:c.802C>T	XP_006713649.1:p.Leu268Phe
XM_011512688.2:c.874C>T	XP_011510990.1:p.Leu292Phe
XM_024453453.1:c.802C>T	XP_024309221.1:p.Leu268Phe
NM_014398.4:c.874C>T MANE Select	NP_055213.2:p.Leu292Phe