Canonical Allele Identifier: CA355321393
Gene: LAMP3 HGNC NCBI

Linked Data

dbSNP Id: rs1179848856

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.183152436G>A , CM000665.2:g.183152436G>A GRCh38
NC_000003.11:g.182870224G>A , CM000665.1:g.182870224G>A GRCh37
NC_000003.10:g.184352918G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000265598.8:c.827C>T MANE Select ENSP00000265598.3:p.Thr276Ile
ENST00000265598.7:c.827C>T ENSP00000265598.3:p.Thr276Ile
ENST00000466939.1:c.755C>T ENSP00000418912.1:p.Thr252Ile
NM_014398.3:c.827C>T NP_055213.2:p.Thr276Ile
XM_005247360.3:c.827C>T XP_005247417.1:p.Thr276Ile
XM_006713586.2:c.755C>T XP_006713649.1:p.Thr252Ile
XM_011512688.1:c.827C>T XP_011510990.1:p.Thr276Ile
XR_924123.1:n.887C>T
XR_924124.1:n.887C>T
XM_005247360.5:c.827C>T XP_005247417.1:p.Thr276Ile
XM_006713586.3:c.755C>T XP_006713649.1:p.Thr252Ile
XM_011512688.2:c.827C>T XP_011510990.1:p.Thr276Ile
XM_024453453.1:c.755C>T XP_024309221.1:p.Thr252Ile
NM_014398.4:c.827C>T MANE Select NP_055213.2:p.Thr276Ile