Canonical Allele Identifier: CA2346471672
Community Standard Title: NM_033453.4(ITPA):c.452G= (p.Trp151=)
Gene: ITPA HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_033453.4:c.452G= MANE Select NP_258412.1:p.Trp151=
ENST00000380113.8:c.452G= MANE Select ENSP00000369456.3:p.Trp151=
NM_001267623.1:c.329G= NP_001254552.1:p.Trp110=
NM_001267623.2:c.329G= NP_001254552.1:p.Trp110=
NM_001324236.1:c.115G= NP_001311165.1:p.Gly39=
NM_001324236.2:c.115G= NP_001311165.1:p.Gly39=
NM_001324237.1:c.115G= NP_001311166.1:p.Gly39=
NM_001324237.2:c.115G= NP_001311166.1:p.Gly39=
NM_001324238.1:c.115G= NP_001311167.1:p.Gly39=
NM_001324238.2:c.115G= NP_001311167.1:p.Gly39=
NM_001324240.1:c.411+3249G= NP_001311169.1:n.411+3249G=
NM_001324240.2:c.411+3249G= NP_001311169.1:n.411+3249G=
NM_001351739.1:c.115G= NP_001338668.1:p.Gly39=
NM_001351739.2:c.115G= NP_001338668.1:p.Gly39=
NM_033453.3:c.452G= NP_258412.1:p.Trp151=
NM_181493.2:c.401G= NP_852470.1:p.Trp134=
NM_181493.3:c.401G= NP_852470.1:p.Trp134=
NM_181493.4:c.401G= NP_852470.1:p.Trp134=
NR_052000.1:n.487G=
NR_052000.2:n.679G=
NR_052001.1:n.437G=
NR_052002.1:n.579G=
NR_052002.2:n.441G=
ENST00000380113.7:c.452G= ENSP00000369456.3:p.Trp151=
ENST00000399838.3:c.329G= ENSP00000382732.3:p.Trp110=
ENST00000455664.6:c.401G= ENSP00000413282.1:p.Trp134=
ENST00000460550.5:n.426G=
ENST00000461029.1:n.258G=
ENST00000472295.1:n.129G=
ENST00000483354.5:n.487G=
ENST00000490838.6:n.436G=
XM_006723564.2:c.499G= XP_006723627.1:p.Gly167=
XM_006723564.3:c.499G= XP_006723627.1:p.Gly167=
XM_006723565.2:c.376G= XP_006723628.1:p.Gly126=
XM_006723565.3:c.376G= XP_006723628.1:p.Gly126=
XM_011529235.1:c.411+3249G= XP_011527537.1:n.411+3249G=
XM_024451880.1:c.115G= XP_024307648.1:p.Gly39=