Canonical Allele Identifier: CA367193265
Community Standard Title: NM_001002010.5(NT5C3A):c.248A>T (p.Asp83Val)
Gene: NT5C3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.33024098T>A , CM000669.2:g.33024098T>A GRCh38
NC_000007.13:g.33063710T>A , CM000669.1:g.33063710T>A GRCh37
NC_000007.12:g.33030235T>A NCBI36
NG_015800.1:g.43700A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001002010.5:c.248A>T MANE Select NP_001002010.2:p.Asp83Val
ENST00000610140.7:c.248A>T MANE Select ENSP00000476480.2:p.Asp83Val
NM_001002009.2:c.146A>T NP_001002009.1:p.Asp49Val
NM_001002009.3:c.146A>T NP_001002009.1:p.Asp49Val
NM_001002010.2:c.263A>T NP_001002010.1:p.Asp88Val
NM_001002010.3:c.248A>T NP_001002010.2:p.Asp83Val
NM_001166118.2:c.110A>T NP_001159590.1:p.Asp37Val
NM_001166118.3:c.110A>T NP_001159590.1:p.Asp37Val
NM_001356996.1:c.110A>T NP_001343925.1:p.Asp37Val
NM_001356996.2:c.110A>T NP_001343925.1:p.Asp37Val
NM_001356996.3:c.110A>T NP_001343925.1:p.Asp37Val
NM_001374335.1:c.149A>T NP_001361264.1:p.Asp50Val
NM_001374336.1:c.110A>T NP_001361265.1:p.Asp37Val
NM_001374337.1:c.110A>T NP_001361266.1:p.Asp37Val
NM_001374338.1:c.248A>T NP_001361267.1:p.Asp83Val
NM_001374339.1:c.47A>T NP_001361268.1:p.Asp16Val
NM_016489.12:c.146A>T NP_057573.2:p.Asp49Val
NM_016489.13:c.146A>T NP_057573.2:p.Asp49Val
NM_016489.14:c.146A>T NP_057573.2:p.Asp49Val
ENST00000242210.11:c.263A>T ENSP00000242210.7:p.Asp88Val
ENST00000381626.6:c.110A>T ENSP00000371039.2:p.Asp37Val
ENST00000396152.6:c.146A>T ENSP00000379456.2:p.Asp49Val
ENST00000405342.5:c.146A>T ENSP00000385261.1:p.Asp49Val
ENST00000409467.5:c.110A>T ENSP00000387166.1:p.Asp37Val
ENST00000409467.6:c.110A>T ENSP00000387166.1:p.Asp37Val
ENST00000409787.4:c.146A>T ENSP00000387205.1:p.Asp49Val
ENST00000449201.5:c.110A>T ENSP00000401161.1:p.Asp37Val
ENST00000456458.5:c.*153A>T ENSP00000389676.2:n.*153A>T
ENST00000461851.1:n.228A>T
ENST00000461851.2:n.228A>T
ENST00000464840.5:n.201A>T
ENST00000610140.5:c.248A>T ENSP00000476480.1:p.Asp83Val
ENST00000620705.4:c.263A>T ENSP00000484415.1:p.Asp88Val
ENST00000643244.1:c.146A>T ENSP00000496364.1:p.Asp49Val
XM_011515409.1:c.110A>T XP_011513711.1:p.Asp37Val