Canonical Allele Identifier: CA310968139

Gene: ITPA

Linked Data

• dbSNP Id: rs980202804
• gnomAD v3: 20-3213538-A-G
• gnomAD v4: 20-3213538-A-G
• MyVariant Identifiers: chr20:g.3194184A>G (hg19) ; chr20:g.3213538A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3213538A>G , CM000682.2:g.3213538A>G	GRCh38
NC_000020.10:g.3194184A>G , CM000682.1:g.3194184A>G	GRCh37
NC_000020.9:g.3142184A>G	NCBI36
NG_012093.1:g.9129A>G
NG_012093.2:g.9672A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380113.8:c.189+155A>G MANE Select	ENSP00000369456.3:n.189+155A>G
ENST00000380113.7:c.189+155A>G	ENSP00000369456.3:n.189+155A>G
ENST00000399838.3:c.67-447A>G	ENSP00000382732.3:n.67-447A>G
ENST00000455664.6:c.138+155A>G	ENSP00000413282.1:n.138+155A>G
ENST00000460550.5:n.163+312A>G
ENST00000460676.5:n.302+112A>G
ENST00000483354.5:n.224+312A>G
ENST00000490838.6:n.173+155A>G
ENST00000609835.5:n.243+155A>G
NM_001267623.1:c.67-447A>G	NP_001254552.1:n.67-447A>G
NM_033453.3:c.189+155A>G	NP_258412.1:n.189+155A>G
NM_181493.2:c.138+155A>G	NP_852470.1:n.138+155A>G
NR_052000.1:n.224+312A>G
NR_052001.1:n.174+155A>G
NR_052002.1:n.316+312A>G
XM_006723564.2:c.189+155A>G	XP_006723627.1:n.189+155A>G
XM_006723565.2:c.67-447A>G	XP_006723628.1:n.67-447A>G
XM_011529234.1:c.189+155A>G	XP_011527536.1:n.189+155A>G
XM_011529235.1:c.189+155A>G	XP_011527537.1:n.189+155A>G
NM_001324236.1:c.-149+155A>G	NP_001311165.1:n.-149+155A>G
NM_001324237.1:c.-149+155A>G	NP_001311166.1:n.-149+155A>G
NM_001324238.1:c.-149+155A>G	NP_001311167.1:n.-149+155A>G
NM_001324240.1:c.189+155A>G	NP_001311169.1:n.189+155A>G
NM_001351739.1:c.-149+155A>G	NP_001338668.1:n.-149+155A>G
NM_181493.3:c.138+155A>G	NP_852470.1:n.138+155A>G
XM_006723564.3:c.189+155A>G	XP_006723627.1:n.189+155A>G
XM_006723565.3:c.67-447A>G	XP_006723628.1:n.67-447A>G
XM_011529234.2:c.189+155A>G	XP_011527536.1:n.189+155A>G
XM_024451880.1:c.-595A>G	XP_024307648.1:n.-595A>G
NM_033453.4:c.189+155A>G MANE Select	NP_258412.1:n.189+155A>G
NM_001267623.2:c.67-447A>G	NP_001254552.1:n.67-447A>G
NM_001324236.2:c.-149+155A>G	NP_001311165.1:n.-149+155A>G
NM_001324237.2:c.-149+155A>G	NP_001311166.1:n.-149+155A>G
NM_001324238.2:c.-149+155A>G	NP_001311167.1:n.-149+155A>G
NM_001324240.2:c.189+155A>G	NP_001311169.1:n.189+155A>G
NM_001351739.2:c.-149+155A>G	NP_001338668.1:n.-149+155A>G
NM_181493.4:c.138+155A>G	NP_852470.1:n.138+155A>G
NR_052000.2:n.416+312A>G
NR_052002.2:n.178+312A>G