Canonical Allele Identifier: CA408080901

Gene: ITPA

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3221881G>C , CM000682.2:g.3221881G>C	GRCh38
NC_000020.10:g.3202527G>C , CM000682.1:g.3202527G>C	GRCh37
NC_000020.9:g.3150527G>C	NCBI36
NG_012093.1:g.17472G>C
NG_012093.2:g.18015G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380113.8:c.452G>C MANE Select	ENSP00000369456.3:p.Trp151Ser
ENST00000380113.7:c.452G>C	ENSP00000369456.3:p.Trp151Ser
ENST00000399838.3:c.329G>C	ENSP00000382732.3:p.Trp110Ser
ENST00000455664.6:c.401G>C	ENSP00000413282.1:p.Trp134Ser
ENST00000460550.5:n.426G>C
ENST00000461029.1:n.258G>C
ENST00000472295.1:n.129G>C
ENST00000483354.5:n.487G>C
ENST00000490838.6:n.436G>C
NM_001267623.1:c.329G>C	NP_001254552.1:p.Trp110Ser
NM_033453.3:c.452G>C	NP_258412.1:p.Trp151Ser
NM_181493.2:c.401G>C	NP_852470.1:p.Trp134Ser
NR_052000.1:n.487G>C
NR_052001.1:n.437G>C
NR_052002.1:n.579G>C
XM_006723564.2:c.499G>C	XP_006723627.1:p.Gly167Arg
XM_006723565.2:c.376G>C	XP_006723628.1:p.Gly126Arg
XM_011529235.1:c.411+3249G>C	XP_011527537.1:n.411+3249G>C
NM_001324236.1:c.115G>C	NP_001311165.1:p.Gly39Arg
NM_001324237.1:c.115G>C	NP_001311166.1:p.Gly39Arg
NM_001324238.1:c.115G>C	NP_001311167.1:p.Gly39Arg
NM_001324240.1:c.411+3249G>C	NP_001311169.1:n.411+3249G>C
NM_001351739.1:c.115G>C	NP_001338668.1:p.Gly39Arg
NM_181493.3:c.401G>C	NP_852470.1:p.Trp134Ser
XM_006723564.3:c.499G>C	XP_006723627.1:p.Gly167Arg
XM_006723565.3:c.376G>C	XP_006723628.1:p.Gly126Arg
XM_024451880.1:c.115G>C	XP_024307648.1:p.Gly39Arg
NM_033453.4:c.452G>C MANE Select	NP_258412.1:p.Trp151Ser
NM_001267623.2:c.329G>C	NP_001254552.1:p.Trp110Ser
NM_001324236.2:c.115G>C	NP_001311165.1:p.Gly39Arg
NM_001324237.2:c.115G>C	NP_001311166.1:p.Gly39Arg
NM_001324238.2:c.115G>C	NP_001311167.1:p.Gly39Arg
NM_001324240.2:c.411+3249G>C	NP_001311169.1:n.411+3249G>C
NM_001351739.2:c.115G>C	NP_001338668.1:p.Gly39Arg
NM_181493.4:c.401G>C	NP_852470.1:p.Trp134Ser
NR_052000.2:n.679G>C
NR_052002.2:n.441G>C