Canonical Allele Identifier: CA2734924

Gene: THPO EIF2B5

Linked Data

• ClinVar Variation Id: 281426
• ClinVar RCV Id: RCV000294778 ; RCV001332471
• dbSNP Id: rs768776540
• ExAC: 3:184090845 A / G
• gnomAD v2: 3-184090845-A-G
• gnomAD v3: 3-184373057-A-G
• gnomAD v4: 3-184373057-A-G
• MyVariant Identifiers: chr3:g.184090845A>G (hg19) ; chr3:g.184373057A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184373057A>G , CM000665.2:g.184373057A>G	GRCh38
NC_000003.11:g.184090845A>G , CM000665.1:g.184090845A>G	GRCh37
NC_000003.10:g.185573539A>G	NCBI36
NG_012136.1:g.10088T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645603.2:c.938T>C (THPO)	ENSP00000494281.2:p.Val313Ala
ENST00000647395.1:c.518T>C (THPO) MANE Select	ENSP00000494504.1:p.Val173Ala
ENST00000649095.1:c.938T>C (THPO)	ENSP00000497904.1:p.Val313Ala
ENST00000650229.1:c.501T>C (THPO)	ENSP00000497233.1:p.Arg167=
ENST00000204615.11:c.518T>C (THPO)	ENSP00000204615.7:p.Val173Ala
ENST00000421442.2:c.477+41T>C (THPO)	ENSP00000411704.2:n.477+41T>C
ENST00000444495.1:c.2106+228350A>G (EIF2B5)	ENSP00000409142.1:n.2106+228350A>G
ENST00000445696.6:c.506T>C (THPO)	ENSP00000410763.2:p.Val169Ala
ENST00000477594.1:n.164+41T>C (THPO)
NM_000460.3:c.518T>C (THPO)	NP_000451.1:p.Val173Ala
NM_001177597.2:c.506T>C (THPO)	NP_001171068.1:p.Val169Ala
NM_001177598.2:c.501T>C (THPO)	NP_001171069.1:p.Arg167=
NM_001289997.1:c.477+41T>C (THPO)	NP_001276926.1:n.477+41T>C
NM_001289998.1:c.518T>C (THPO)	NP_001276927.1:p.Val173Ala
NM_001290003.1:c.938T>C (THPO)	NP_001276932.1:p.Val313Ala
NM_001290022.1:c.506T>C (THPO)	NP_001276951.1:p.Val169Ala
NM_001290026.1:c.501T>C (THPO)	NP_001276955.1:p.Arg167=
NM_001290027.1:c.477+41T>C (THPO)	NP_001276956.1:n.477+41T>C
NM_001290028.1:c.518T>C (THPO)	NP_001276957.1:p.Val173Ala
XM_011513113.1:c.885+41T>C (THPO)	XP_011511415.1:n.885+41T>C
NM_000460.4:c.518T>C (THPO) MANE Select	NP_000451.1:p.Val173Ala
XM_017007107.1:c.885+41T>C (THPO)	XP_016862596.1:n.885+41T>C