Canonical Allele Identifier: CA2346467436
Community Standard Title: NM_033453.4(ITPA):c.124+21A=
Gene: ITPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3213247A= , CM000682.2:g.3213247A= GRCh38
NC_000020.10:g.3193893A= , CM000682.1:g.3193893A= GRCh37
NC_000020.9:g.3141893A= NCBI36
NG_012093.1:g.8838A=
NG_012093.2:g.9381A=

Transcript Alleles

HGVS Amino-acid Change
NM_033453.4:c.124+21A= MANE Select NP_258412.1:n.124+21A=
ENST00000380113.8:c.124+21A= MANE Select ENSP00000369456.3:n.124+21A=
NM_001267623.1:c.67-738A= NP_001254552.1:n.67-738A=
NM_001267623.2:c.67-738A= NP_001254552.1:n.67-738A=
NM_001324236.1:c.-274-11A= NP_001311165.1:n.-274-11A=
NM_001324236.2:c.-274-11A= NP_001311165.1:n.-274-11A=
NM_001324237.1:c.-214+21A= NP_001311166.1:n.-214+21A=
NM_001324237.2:c.-214+21A= NP_001311166.1:n.-214+21A=
NM_001324238.1:c.-274-11A= NP_001311167.1:n.-274-11A=
NM_001324238.2:c.-274-11A= NP_001311167.1:n.-274-11A=
NM_001324240.1:c.124+21A= NP_001311169.1:n.124+21A=
NM_001324240.2:c.124+21A= NP_001311169.1:n.124+21A=
NM_001351739.1:c.-274-11A= NP_001338668.1:n.-274-11A=
NM_001351739.2:c.-274-11A= NP_001338668.1:n.-274-11A=
NM_033453.3:c.124+21A= NP_258412.1:n.124+21A=
NM_181493.2:c.73+21A= NP_852470.1:n.73+21A=
NM_181493.3:c.73+21A= NP_852470.1:n.73+21A=
NM_181493.4:c.73+21A= NP_852470.1:n.73+21A=
NR_052000.1:n.224+21A=
NR_052000.2:n.416+21A=
NR_052001.1:n.49-11A=
NR_052002.1:n.316+21A=
NR_052002.2:n.178+21A=
ENST00000380113.7:c.124+21A= ENSP00000369456.3:n.124+21A=
ENST00000399838.3:c.67-738A= ENSP00000382732.3:n.67-738A=
ENST00000455664.6:c.73+21A= ENSP00000413282.1:n.73+21A=
ENST00000460550.5:n.163+21A=
ENST00000460676.5:n.194+21A=
ENST00000483354.5:n.224+21A=
ENST00000490838.6:n.48-11A=
ENST00000609835.5:n.118-11A=
XM_006723564.2:c.124+21A= XP_006723627.1:n.124+21A=
XM_006723564.3:c.124+21A= XP_006723627.1:n.124+21A=
XM_006723565.2:c.67-738A= XP_006723628.1:n.67-738A=
XM_006723565.3:c.67-738A= XP_006723628.1:n.67-738A=
XM_011529234.1:c.124+21A= XP_011527536.1:n.124+21A=
XM_011529234.2:c.124+21A= XP_011527536.1:n.124+21A=
XM_011529235.1:c.124+21A= XP_011527537.1:n.124+21A=
XM_024451880.1:c.-875-11A= XP_024307648.1:n.-875-11A=