Canonical Allele Identifier: CA341170637
Gene: SLC30A7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.100912118T>A , CM000663.2:g.100912118T>A GRCh38
NC_000001.10:g.101377674T>A , CM000663.1:g.101377674T>A GRCh37
NC_000001.9:g.101150262T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000357650.9:c.391T>A MANE Select ENSP00000350278.4:p.Leu131Ile
ENST00000357650.8:c.391T>A ENSP00000350278.4:p.Leu131Ile
ENST00000370112.8:c.391T>A ENSP00000359130.4:p.Leu131Ile
NM_001144884.1:c.391T>A NP_001138356.1:p.Leu131Ile
NM_133496.4:c.391T>A NP_598003.2:p.Leu131Ile
XM_011540779.1:c.181T>A XP_011539081.1:p.Leu61Ile
XR_246237.2:n.576T>A
XM_011540779.3:c.181T>A XP_011539081.1:p.Leu61Ile
XM_017000400.2:c.391T>A XP_016855889.1:p.Leu131Ile
XM_017000401.2:c.391T>A XP_016855890.1:p.Leu131Ile
XR_246237.3:n.562T>A
NM_133496.5:c.391T>A MANE Select NP_598003.2:p.Leu131Ile
NM_001144884.2:c.391T>A NP_001138356.1:p.Leu131Ile