Canonical Allele Identifier: CA310968094

Gene: ITPA

Linked Data

• dbSNP Id: rs1006005169
• gnomAD v2: 20-3194144-C-G
• gnomAD v3: 20-3213498-C-G
• gnomAD v4: 20-3213498-C-G
• MyVariant Identifiers: chr20:g.3194144C>G (hg19) ; chr20:g.3213498C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3213498C>G , CM000682.2:g.3213498C>G	GRCh38
NC_000020.10:g.3194144C>G , CM000682.1:g.3194144C>G	GRCh37
NC_000020.9:g.3142144C>G	NCBI36
NG_012093.1:g.9089C>G
NG_012093.2:g.9632C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380113.8:c.189+115C>G MANE Select	ENSP00000369456.3:n.189+115C>G
ENST00000380113.7:c.189+115C>G	ENSP00000369456.3:n.189+115C>G
ENST00000399838.3:c.67-487C>G	ENSP00000382732.3:n.67-487C>G
ENST00000455664.6:c.138+115C>G	ENSP00000413282.1:n.138+115C>G
ENST00000460550.5:n.163+272C>G
ENST00000460676.5:n.302+72C>G
ENST00000483354.5:n.224+272C>G
ENST00000490838.6:n.173+115C>G
ENST00000609835.5:n.243+115C>G
NM_001267623.1:c.67-487C>G	NP_001254552.1:n.67-487C>G
NM_033453.3:c.189+115C>G	NP_258412.1:n.189+115C>G
NM_181493.2:c.138+115C>G	NP_852470.1:n.138+115C>G
NR_052000.1:n.224+272C>G
NR_052001.1:n.174+115C>G
NR_052002.1:n.316+272C>G
XM_006723564.2:c.189+115C>G	XP_006723627.1:n.189+115C>G
XM_006723565.2:c.67-487C>G	XP_006723628.1:n.67-487C>G
XM_011529234.1:c.189+115C>G	XP_011527536.1:n.189+115C>G
XM_011529235.1:c.189+115C>G	XP_011527537.1:n.189+115C>G
NM_001324236.1:c.-149+115C>G	NP_001311165.1:n.-149+115C>G
NM_001324237.1:c.-149+115C>G	NP_001311166.1:n.-149+115C>G
NM_001324238.1:c.-149+115C>G	NP_001311167.1:n.-149+115C>G
NM_001324240.1:c.189+115C>G	NP_001311169.1:n.189+115C>G
NM_001351739.1:c.-149+115C>G	NP_001338668.1:n.-149+115C>G
NM_181493.3:c.138+115C>G	NP_852470.1:n.138+115C>G
XM_006723564.3:c.189+115C>G	XP_006723627.1:n.189+115C>G
XM_006723565.3:c.67-487C>G	XP_006723628.1:n.67-487C>G
XM_011529234.2:c.189+115C>G	XP_011527536.1:n.189+115C>G
XM_024451880.1:c.-635C>G	XP_024307648.1:n.-635C>G
NM_033453.4:c.189+115C>G MANE Select	NP_258412.1:n.189+115C>G
NM_001267623.2:c.67-487C>G	NP_001254552.1:n.67-487C>G
NM_001324236.2:c.-149+115C>G	NP_001311165.1:n.-149+115C>G
NM_001324237.2:c.-149+115C>G	NP_001311166.1:n.-149+115C>G
NM_001324238.2:c.-149+115C>G	NP_001311167.1:n.-149+115C>G
NM_001324240.2:c.189+115C>G	NP_001311169.1:n.189+115C>G
NM_001351739.2:c.-149+115C>G	NP_001338668.1:n.-149+115C>G
NM_181493.4:c.138+115C>G	NP_852470.1:n.138+115C>G
NR_052000.2:n.416+272C>G
NR_052002.2:n.178+272C>G