Canonical Allele Identifier: CA408081688

Gene: ITPA

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3223409C>A , CM000682.2:g.3223409C>A	GRCh38
NC_000020.10:g.3204055C>A , CM000682.1:g.3204055C>A	GRCh37
NC_000020.9:g.3152055C>A	NCBI36
NG_012093.1:g.19000C>A
NG_012093.2:g.19543C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_033453.4:c.532C>A MANE Select	NP_258412.1:p.Arg178Ser
ENST00000380113.8:c.532C>A MANE Select	ENSP00000369456.3:p.Arg178Ser
NM_001267623.1:c.409C>A	NP_001254552.1:p.Arg137Ser
NM_001267623.2:c.409C>A	NP_001254552.1:p.Arg137Ser
NM_001324236.1:c.195C>A	NP_001311165.1:p.Ile65=
NM_001324236.2:c.195C>A	NP_001311165.1:p.Ile65=
NM_001324237.1:c.195C>A	NP_001311166.1:p.Ile65=
NM_001324237.2:c.195C>A	NP_001311166.1:p.Ile65=
NM_001324238.1:c.195C>A	NP_001311167.1:p.Ile65=
NM_001324238.2:c.195C>A	NP_001311167.1:p.Ile65=
NM_001324240.1:c.412-3274C>A	NP_001311169.1:n.412-3274C>A
NM_001324240.2:c.412-3274C>A	NP_001311169.1:n.412-3274C>A
NM_001351739.1:c.195C>A	NP_001338668.1:p.Ile65=
NM_001351739.2:c.195C>A	NP_001338668.1:p.Ile65=
NM_033453.3:c.532C>A	NP_258412.1:p.Arg178Ser
NM_181493.2:c.481C>A	NP_852470.1:p.Arg161Ser
NM_181493.3:c.481C>A	NP_852470.1:p.Arg161Ser
NM_181493.4:c.481C>A	NP_852470.1:p.Arg161Ser
NR_052000.1:n.567C>A
NR_052000.2:n.759C>A
NR_052001.1:n.517C>A
NR_052002.1:n.659C>A
NR_052002.2:n.521C>A
ENST00000380113.7:c.532C>A	ENSP00000369456.3:p.Arg178Ser
ENST00000399838.3:c.409C>A	ENSP00000382732.3:p.Arg137Ser
ENST00000455664.6:c.481C>A	ENSP00000413282.1:p.Arg161Ser
ENST00000460550.5:n.506C>A
ENST00000461029.1:n.338C>A
ENST00000472295.1:n.209C>A
ENST00000483354.5:n.567C>A
ENST00000490838.6:n.516C>A
XM_006723564.2:c.579C>A	XP_006723627.1:p.Ile193=
XM_006723564.3:c.579C>A	XP_006723627.1:p.Ile193=
XM_006723565.2:c.456C>A	XP_006723628.1:p.Ile152=
XM_006723565.3:c.456C>A	XP_006723628.1:p.Ile152=
XM_011529235.1:c.412-3274C>A	XP_011527537.1:n.412-3274C>A
XM_024451880.1:c.195C>A	XP_024307648.1:p.Ile65=