Canonical Allele Identifier: CA743599753

Gene: ITPA

Linked Data

• dbSNP Id: rs1243307816
• gnomAD v4: 20-3213502-A-G
• MyVariant Identifiers: chr20:g.3194148A>G (hg19) ; chr20:g.3213502A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3213502A>G , CM000682.2:g.3213502A>G	GRCh38
NC_000020.10:g.3194148A>G , CM000682.1:g.3194148A>G	GRCh37
NC_000020.9:g.3142148A>G	NCBI36
NG_012093.1:g.9093A>G
NG_012093.2:g.9636A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380113.8:c.189+119A>G MANE Select	ENSP00000369456.3:n.189+119A>G
ENST00000380113.7:c.189+119A>G	ENSP00000369456.3:n.189+119A>G
ENST00000399838.3:c.67-483A>G	ENSP00000382732.3:n.67-483A>G
ENST00000455664.6:c.138+119A>G	ENSP00000413282.1:n.138+119A>G
ENST00000460550.5:n.163+276A>G
ENST00000460676.5:n.302+76A>G
ENST00000483354.5:n.224+276A>G
ENST00000490838.6:n.173+119A>G
ENST00000609835.5:n.243+119A>G
NM_001267623.1:c.67-483A>G	NP_001254552.1:n.67-483A>G
NM_033453.3:c.189+119A>G	NP_258412.1:n.189+119A>G
NM_181493.2:c.138+119A>G	NP_852470.1:n.138+119A>G
NR_052000.1:n.224+276A>G
NR_052001.1:n.174+119A>G
NR_052002.1:n.316+276A>G
XM_006723564.2:c.189+119A>G	XP_006723627.1:n.189+119A>G
XM_006723565.2:c.67-483A>G	XP_006723628.1:n.67-483A>G
XM_011529234.1:c.189+119A>G	XP_011527536.1:n.189+119A>G
XM_011529235.1:c.189+119A>G	XP_011527537.1:n.189+119A>G
NM_001324236.1:c.-149+119A>G	NP_001311165.1:n.-149+119A>G
NM_001324237.1:c.-149+119A>G	NP_001311166.1:n.-149+119A>G
NM_001324238.1:c.-149+119A>G	NP_001311167.1:n.-149+119A>G
NM_001324240.1:c.189+119A>G	NP_001311169.1:n.189+119A>G
NM_001351739.1:c.-149+119A>G	NP_001338668.1:n.-149+119A>G
NM_181493.3:c.138+119A>G	NP_852470.1:n.138+119A>G
XM_006723564.3:c.189+119A>G	XP_006723627.1:n.189+119A>G
XM_006723565.3:c.67-483A>G	XP_006723628.1:n.67-483A>G
XM_011529234.2:c.189+119A>G	XP_011527536.1:n.189+119A>G
XM_024451880.1:c.-631A>G	XP_024307648.1:n.-631A>G
NM_033453.4:c.189+119A>G MANE Select	NP_258412.1:n.189+119A>G
NM_001267623.2:c.67-483A>G	NP_001254552.1:n.67-483A>G
NM_001324236.2:c.-149+119A>G	NP_001311165.1:n.-149+119A>G
NM_001324237.2:c.-149+119A>G	NP_001311166.1:n.-149+119A>G
NM_001324238.2:c.-149+119A>G	NP_001311167.1:n.-149+119A>G
NM_001324240.2:c.189+119A>G	NP_001311169.1:n.189+119A>G
NM_001351739.2:c.-149+119A>G	NP_001338668.1:n.-149+119A>G
NM_181493.4:c.138+119A>G	NP_852470.1:n.138+119A>G
NR_052000.2:n.416+276A>G
NR_052002.2:n.178+276A>G