Canonical Allele Identifier: CA367192764
Gene: NT5C3A HGNC NCBI

Linked Data

dbSNP Id: rs1273037523
gnomAD v3: 7-33021329-G-C
gnomAD v4: 7-33021329-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.33021329G>C , CM000669.2:g.33021329G>C GRCh38
NC_000007.13:g.33060941G>C , CM000669.1:g.33060941G>C GRCh37
NC_000007.12:g.33027466G>C NCBI36
NG_015800.1:g.46469C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000409467.6:c.245C>G ENSP00000387166.1:p.Ala82Gly
ENST00000610140.7:c.383C>G MANE Select ENSP00000476480.2:p.Ala128Gly
ENST00000643244.1:c.281C>G ENSP00000496364.1:p.Ala94Gly
ENST00000242210.11:c.398C>G ENSP00000242210.7:p.Ala133Gly
ENST00000381626.6:c.245C>G ENSP00000371039.2:p.Ala82Gly
ENST00000396152.6:c.281C>G ENSP00000379456.2:p.Ala94Gly
ENST00000405342.5:c.281C>G ENSP00000385261.1:p.Ala94Gly
ENST00000409467.5:c.245C>G ENSP00000387166.1:p.Ala82Gly
ENST00000409787.4:c.281C>G ENSP00000387205.1:p.Ala94Gly
ENST00000456458.5:c.*288C>G ENSP00000389676.2:n.*288C>G
ENST00000610140.5:c.383C>G ENSP00000476480.1:p.Ala128Gly
ENST00000620705.4:c.398C>G ENSP00000484415.1:p.Ala133Gly
NM_001002009.2:c.281C>G NP_001002009.1:p.Ala94Gly
NM_001002010.2:c.398C>G NP_001002010.1:p.Ala133Gly
NM_001166118.2:c.245C>G NP_001159590.1:p.Ala82Gly
NM_016489.12:c.281C>G NP_057573.2:p.Ala94Gly
XM_011515409.1:c.245C>G XP_011513711.1:p.Ala82Gly
NM_001002010.3:c.383C>G NP_001002010.2:p.Ala128Gly
NM_001356996.1:c.245C>G NP_001343925.1:p.Ala82Gly
NM_001002009.3:c.281C>G NP_001002009.1:p.Ala94Gly
NM_001002010.5:c.383C>G MANE Select NP_001002010.2:p.Ala128Gly
NM_001166118.3:c.245C>G NP_001159590.1:p.Ala82Gly
NM_001356996.2:c.245C>G NP_001343925.1:p.Ala82Gly
NM_001374335.1:c.284C>G NP_001361264.1:p.Ala95Gly
NM_001374336.1:c.245C>G NP_001361265.1:p.Ala82Gly
NM_001374337.1:c.245C>G NP_001361266.1:p.Ala82Gly
NM_001374338.1:c.383C>G NP_001361267.1:p.Ala128Gly
NM_001374339.1:c.182C>G NP_001361268.1:p.Ala61Gly
NM_016489.13:c.281C>G NP_057573.2:p.Ala94Gly
NM_001356996.3:c.245C>G NP_001343925.1:p.Ala82Gly
NM_016489.14:c.281C>G NP_057573.2:p.Ala94Gly