Canonical Allele Identifier: CA367192578
Gene: NT5C3A HGNC NCBI

Linked Data

dbSNP Id: rs1785614501
gnomAD v3: 7-33021278-A-T
gnomAD v4: 7-33021278-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.33021278A>T , CM000669.2:g.33021278A>T GRCh38
NC_000007.13:g.33060890A>T , CM000669.1:g.33060890A>T GRCh37
NC_000007.12:g.33027415A>T NCBI36
NG_015800.1:g.46520T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409467.6:c.296T>A ENSP00000387166.1:p.Val99Glu
ENST00000610140.7:c.434T>A MANE Select ENSP00000476480.2:p.Val145Glu
ENST00000643244.1:c.332T>A ENSP00000496364.1:p.Val111Glu
ENST00000242210.11:c.449T>A ENSP00000242210.7:p.Val150Glu
ENST00000381626.6:c.296T>A ENSP00000371039.2:p.Val99Glu
ENST00000396152.6:c.332T>A ENSP00000379456.2:p.Val111Glu
ENST00000405342.5:c.332T>A ENSP00000385261.1:p.Val111Glu
ENST00000409467.5:c.296T>A ENSP00000387166.1:p.Val99Glu
ENST00000409787.4:c.332T>A ENSP00000387205.1:p.Val111Glu
ENST00000456458.5:c.*339T>A ENSP00000389676.2:n.*339T>A
ENST00000610140.5:c.434T>A ENSP00000476480.1:p.Val145Glu
ENST00000620705.4:c.449T>A ENSP00000484415.1:p.Val150Glu
NM_001002009.2:c.332T>A NP_001002009.1:p.Val111Glu
NM_001002010.2:c.449T>A NP_001002010.1:p.Val150Glu
NM_001166118.2:c.296T>A NP_001159590.1:p.Val99Glu
NM_016489.12:c.332T>A NP_057573.2:p.Val111Glu
XM_011515409.1:c.296T>A XP_011513711.1:p.Val99Glu
NM_001002010.3:c.434T>A NP_001002010.2:p.Val145Glu
NM_001356996.1:c.296T>A NP_001343925.1:p.Val99Glu
NM_001002009.3:c.332T>A NP_001002009.1:p.Val111Glu
NM_001002010.5:c.434T>A MANE Select NP_001002010.2:p.Val145Glu
NM_001166118.3:c.296T>A NP_001159590.1:p.Val99Glu
NM_001356996.2:c.296T>A NP_001343925.1:p.Val99Glu
NM_001374335.1:c.335T>A NP_001361264.1:p.Val112Glu
NM_001374336.1:c.296T>A NP_001361265.1:p.Val99Glu
NM_001374337.1:c.296T>A NP_001361266.1:p.Val99Glu
NM_001374338.1:c.434T>A NP_001361267.1:p.Val145Glu
NM_001374339.1:c.233T>A NP_001361268.1:p.Val78Glu
NM_016489.13:c.332T>A NP_057573.2:p.Val111Glu
NM_001356996.3:c.296T>A NP_001343925.1:p.Val99Glu
NM_016489.14:c.332T>A NP_057573.2:p.Val111Glu