Canonical Allele Identifier: CA367192839
Gene: NT5C3A HGNC NCBI

Linked Data

dbSNP Id: rs1375591598
gnomAD v3: 7-33021341-T-C
gnomAD v4: 7-33021341-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.33021341T>C , CM000669.2:g.33021341T>C GRCh38
NC_000007.13:g.33060953T>C , CM000669.1:g.33060953T>C GRCh37
NC_000007.12:g.33027478T>C NCBI36
NG_015800.1:g.46457A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409467.6:c.233A>G ENSP00000387166.1:p.Glu78Gly
ENST00000610140.7:c.371A>G MANE Select ENSP00000476480.2:p.Glu124Gly
ENST00000643244.1:c.269A>G ENSP00000496364.1:p.Glu90Gly
ENST00000242210.11:c.386A>G ENSP00000242210.7:p.Glu129Gly
ENST00000381626.6:c.233A>G ENSP00000371039.2:p.Glu78Gly
ENST00000396152.6:c.269A>G ENSP00000379456.2:p.Glu90Gly
ENST00000405342.5:c.269A>G ENSP00000385261.1:p.Glu90Gly
ENST00000409467.5:c.233A>G ENSP00000387166.1:p.Glu78Gly
ENST00000409787.4:c.269A>G ENSP00000387205.1:p.Glu90Gly
ENST00000456458.5:c.*276A>G ENSP00000389676.2:n.*276A>G
ENST00000610140.5:c.371A>G ENSP00000476480.1:p.Glu124Gly
ENST00000620705.4:c.386A>G ENSP00000484415.1:p.Glu129Gly
NM_001002009.2:c.269A>G NP_001002009.1:p.Glu90Gly
NM_001002010.2:c.386A>G NP_001002010.1:p.Glu129Gly
NM_001166118.2:c.233A>G NP_001159590.1:p.Glu78Gly
NM_016489.12:c.269A>G NP_057573.2:p.Glu90Gly
XM_011515409.1:c.233A>G XP_011513711.1:p.Glu78Gly
NM_001002010.3:c.371A>G NP_001002010.2:p.Glu124Gly
NM_001356996.1:c.233A>G NP_001343925.1:p.Glu78Gly
NM_001002009.3:c.269A>G NP_001002009.1:p.Glu90Gly
NM_001002010.5:c.371A>G MANE Select NP_001002010.2:p.Glu124Gly
NM_001166118.3:c.233A>G NP_001159590.1:p.Glu78Gly
NM_001356996.2:c.233A>G NP_001343925.1:p.Glu78Gly
NM_001374335.1:c.272A>G NP_001361264.1:p.Glu91Gly
NM_001374336.1:c.233A>G NP_001361265.1:p.Glu78Gly
NM_001374337.1:c.233A>G NP_001361266.1:p.Glu78Gly
NM_001374338.1:c.371A>G NP_001361267.1:p.Glu124Gly
NM_001374339.1:c.170A>G NP_001361268.1:p.Glu57Gly
NM_016489.13:c.269A>G NP_057573.2:p.Glu90Gly
NM_001356996.3:c.233A>G NP_001343925.1:p.Glu78Gly
NM_016489.14:c.269A>G NP_057573.2:p.Glu90Gly