Canonical Allele Identifier: CA743599768

Gene: ITPA

Linked Data

• dbSNP Id: rs1205550785
• gnomAD v3: 20-3213518-G-C
• gnomAD v4: 20-3213518-G-C
• MyVariant Identifiers: chr20:g.3194164G>C (hg19) ; chr20:g.3213518G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3213518G>C , CM000682.2:g.3213518G>C	GRCh38
NC_000020.10:g.3194164G>C , CM000682.1:g.3194164G>C	GRCh37
NC_000020.9:g.3142164G>C	NCBI36
NG_012093.1:g.9109G>C
NG_012093.2:g.9652G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380113.8:c.189+135G>C MANE Select	ENSP00000369456.3:n.189+135G>C
ENST00000380113.7:c.189+135G>C	ENSP00000369456.3:n.189+135G>C
ENST00000399838.3:c.67-467G>C	ENSP00000382732.3:n.67-467G>C
ENST00000455664.6:c.138+135G>C	ENSP00000413282.1:n.138+135G>C
ENST00000460550.5:n.163+292G>C
ENST00000460676.5:n.302+92G>C
ENST00000483354.5:n.224+292G>C
ENST00000490838.6:n.173+135G>C
ENST00000609835.5:n.243+135G>C
NM_001267623.1:c.67-467G>C	NP_001254552.1:n.67-467G>C
NM_033453.3:c.189+135G>C	NP_258412.1:n.189+135G>C
NM_181493.2:c.138+135G>C	NP_852470.1:n.138+135G>C
NR_052000.1:n.224+292G>C
NR_052001.1:n.174+135G>C
NR_052002.1:n.316+292G>C
XM_006723564.2:c.189+135G>C	XP_006723627.1:n.189+135G>C
XM_006723565.2:c.67-467G>C	XP_006723628.1:n.67-467G>C
XM_011529234.1:c.189+135G>C	XP_011527536.1:n.189+135G>C
XM_011529235.1:c.189+135G>C	XP_011527537.1:n.189+135G>C
NM_001324236.1:c.-149+135G>C	NP_001311165.1:n.-149+135G>C
NM_001324237.1:c.-149+135G>C	NP_001311166.1:n.-149+135G>C
NM_001324238.1:c.-149+135G>C	NP_001311167.1:n.-149+135G>C
NM_001324240.1:c.189+135G>C	NP_001311169.1:n.189+135G>C
NM_001351739.1:c.-149+135G>C	NP_001338668.1:n.-149+135G>C
NM_181493.3:c.138+135G>C	NP_852470.1:n.138+135G>C
XM_006723564.3:c.189+135G>C	XP_006723627.1:n.189+135G>C
XM_006723565.3:c.67-467G>C	XP_006723628.1:n.67-467G>C
XM_011529234.2:c.189+135G>C	XP_011527536.1:n.189+135G>C
XM_024451880.1:c.-615G>C	XP_024307648.1:n.-615G>C
NM_033453.4:c.189+135G>C MANE Select	NP_258412.1:n.189+135G>C
NM_001267623.2:c.67-467G>C	NP_001254552.1:n.67-467G>C
NM_001324236.2:c.-149+135G>C	NP_001311165.1:n.-149+135G>C
NM_001324237.2:c.-149+135G>C	NP_001311166.1:n.-149+135G>C
NM_001324238.2:c.-149+135G>C	NP_001311167.1:n.-149+135G>C
NM_001324240.2:c.189+135G>C	NP_001311169.1:n.189+135G>C
NM_001351739.2:c.-149+135G>C	NP_001338668.1:n.-149+135G>C
NM_181493.4:c.138+135G>C	NP_852470.1:n.138+135G>C
NR_052000.2:n.416+292G>C
NR_052002.2:n.178+292G>C