Canonical Allele Identifier: CA1425998965

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184375431C= , CM000665.2:g.184375431C= GRCh38
NC_000003.11:g.184093219C= , CM000665.1:g.184093219C= GRCh37
NC_000003.10:g.185575913C= NCBI36
NG_012136.1:g.7714G=
NG_029559.1:g.359C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000645603.2:c.648+84G= (THPO) ENSP00000494281.2:n.648+84G=
ENST00000647395.1:c.228+84G= (THPO) MANE Select ENSP00000494504.1:n.228+84G=
ENST00000649095.1:c.648+84G= (THPO) ENSP00000497904.1:n.648+84G=
ENST00000650229.1:c.228+84G= (THPO) ENSP00000497233.1:n.228+84G=
ENST00000204615.11:c.228+84G= (THPO) ENSP00000204615.7:n.228+84G=
ENST00000421442.2:c.228+84G= (THPO) ENSP00000411704.2:n.228+84G=
ENST00000444495.1:c.2106+230724C= (EIF2B5) ENSP00000409142.1:n.2106+230724C=
ENST00000445696.6:c.228+84G= (THPO) ENSP00000410763.2:n.228+84G=
NM_000460.3:c.228+84G= (THPO) NP_000451.1:n.228+84G=
NM_001177597.2:c.228+84G= (THPO) NP_001171068.1:n.228+84G=
NM_001177598.2:c.228+84G= (THPO) NP_001171069.1:n.228+84G=
NM_001289997.1:c.228+84G= (THPO) NP_001276926.1:n.228+84G=
NM_001289998.1:c.228+84G= (THPO) NP_001276927.1:n.228+84G=
NM_001290003.1:c.648+84G= (THPO) NP_001276932.1:n.648+84G=
NM_001290022.1:c.228+84G= (THPO) NP_001276951.1:n.228+84G=
NM_001290026.1:c.228+84G= (THPO) NP_001276955.1:n.228+84G=
NM_001290027.1:c.228+84G= (THPO) NP_001276956.1:n.228+84G=
NM_001290028.1:c.228+84G= (THPO) NP_001276957.1:n.228+84G=
XM_011513113.1:c.648+84G= (THPO) XP_011511415.1:n.648+84G=
NM_000460.4:c.228+84G= (THPO) MANE Select NP_000451.1:n.228+84G=
XM_017007107.1:c.648+84G= (THPO) XP_016862596.1:n.648+84G=