Canonical Allele Identifier: CA355321312
Gene: LAMP3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.183152395C>A , CM000665.2:g.183152395C>A GRCh38
NC_000003.11:g.182870183C>A , CM000665.1:g.182870183C>A GRCh37
NC_000003.10:g.184352877C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000265598.8:c.868G>T MANE Select ENSP00000265598.3:p.Val290Leu
ENST00000265598.7:c.868G>T ENSP00000265598.3:p.Val290Leu
ENST00000466939.1:c.796G>T ENSP00000418912.1:p.Val266Leu
NM_014398.3:c.868G>T NP_055213.2:p.Val290Leu
XM_005247360.3:c.868G>T XP_005247417.1:p.Val290Leu
XM_006713586.2:c.796G>T XP_006713649.1:p.Val266Leu
XM_011512688.1:c.868G>T XP_011510990.1:p.Val290Leu
XR_924123.1:n.928G>T
XR_924124.1:n.928G>T
XM_005247360.5:c.868G>T XP_005247417.1:p.Val290Leu
XM_006713586.3:c.796G>T XP_006713649.1:p.Val266Leu
XM_011512688.2:c.868G>T XP_011510990.1:p.Val290Leu
XM_024453453.1:c.796G>T XP_024309221.1:p.Val266Leu
NM_014398.4:c.868G>T MANE Select NP_055213.2:p.Val290Leu