Canonical Allele Identifier: CA355462371

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184373066G>A , CM000665.2:g.184373066G>A GRCh38
NC_000003.11:g.184090854G>A , CM000665.1:g.184090854G>A GRCh37
NC_000003.10:g.185573548G>A NCBI36
NG_012136.1:g.10079C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645603.2:c.929C>T (THPO) ENSP00000494281.2:p.Thr310Ile
ENST00000647395.1:c.509C>T (THPO) MANE Select ENSP00000494504.1:p.Thr170Ile
ENST00000649095.1:c.929C>T (THPO) ENSP00000497904.1:p.Thr310Ile
ENST00000650229.1:c.492C>T (THPO) ENSP00000497233.1:p.His164=
ENST00000204615.11:c.509C>T (THPO) ENSP00000204615.7:p.Thr170Ile
ENST00000421442.2:c.477+32C>T (THPO) ENSP00000411704.2:n.477+32C>T
ENST00000444495.1:c.2106+228359G>A (EIF2B5) ENSP00000409142.1:n.2106+228359G>A
ENST00000445696.6:c.497C>T (THPO) ENSP00000410763.2:p.Thr166Ile
ENST00000477594.1:n.164+32C>T (THPO)
NM_000460.3:c.509C>T (THPO) NP_000451.1:p.Thr170Ile
NM_001177597.2:c.497C>T (THPO) NP_001171068.1:p.Thr166Ile
NM_001177598.2:c.492C>T (THPO) NP_001171069.1:p.His164=
NM_001289997.1:c.477+32C>T (THPO) NP_001276926.1:n.477+32C>T
NM_001289998.1:c.509C>T (THPO) NP_001276927.1:p.Thr170Ile
NM_001290003.1:c.929C>T (THPO) NP_001276932.1:p.Thr310Ile
NM_001290022.1:c.497C>T (THPO) NP_001276951.1:p.Thr166Ile
NM_001290026.1:c.492C>T (THPO) NP_001276955.1:p.His164=
NM_001290027.1:c.477+32C>T (THPO) NP_001276956.1:n.477+32C>T
NM_001290028.1:c.509C>T (THPO) NP_001276957.1:p.Thr170Ile
XM_011513113.1:c.885+32C>T (THPO) XP_011511415.1:n.885+32C>T
NM_000460.4:c.509C>T (THPO) MANE Select NP_000451.1:p.Thr170Ile
XM_017007107.1:c.885+32C>T (THPO) XP_016862596.1:n.885+32C>T