Canonical Allele Identifier: CA367192771
Gene: NT5C3A HGNC NCBI

Linked Data

dbSNP Id: rs772942875
gnomAD v3: 7-33021330-C-A
gnomAD v4: 7-33021330-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.33021330C>A , CM000669.2:g.33021330C>A GRCh38
NC_000007.13:g.33060942C>A , CM000669.1:g.33060942C>A GRCh37
NC_000007.12:g.33027467C>A NCBI36
NG_015800.1:g.46468G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000409467.6:c.244G>T ENSP00000387166.1:p.Ala82Ser
ENST00000610140.7:c.382G>T MANE Select ENSP00000476480.2:p.Ala128Ser
ENST00000643244.1:c.280G>T ENSP00000496364.1:p.Ala94Ser
ENST00000242210.11:c.397G>T ENSP00000242210.7:p.Ala133Ser
ENST00000381626.6:c.244G>T ENSP00000371039.2:p.Ala82Ser
ENST00000396152.6:c.280G>T ENSP00000379456.2:p.Ala94Ser
ENST00000405342.5:c.280G>T ENSP00000385261.1:p.Ala94Ser
ENST00000409467.5:c.244G>T ENSP00000387166.1:p.Ala82Ser
ENST00000409787.4:c.280G>T ENSP00000387205.1:p.Ala94Ser
ENST00000456458.5:c.*287G>T ENSP00000389676.2:n.*287G>T
ENST00000610140.5:c.382G>T ENSP00000476480.1:p.Ala128Ser
ENST00000620705.4:c.397G>T ENSP00000484415.1:p.Ala133Ser
NM_001002009.2:c.280G>T NP_001002009.1:p.Ala94Ser
NM_001002010.2:c.397G>T NP_001002010.1:p.Ala133Ser
NM_001166118.2:c.244G>T NP_001159590.1:p.Ala82Ser
NM_016489.12:c.280G>T NP_057573.2:p.Ala94Ser
XM_011515409.1:c.244G>T XP_011513711.1:p.Ala82Ser
NM_001002010.3:c.382G>T NP_001002010.2:p.Ala128Ser
NM_001356996.1:c.244G>T NP_001343925.1:p.Ala82Ser
NM_001002009.3:c.280G>T NP_001002009.1:p.Ala94Ser
NM_001002010.5:c.382G>T MANE Select NP_001002010.2:p.Ala128Ser
NM_001166118.3:c.244G>T NP_001159590.1:p.Ala82Ser
NM_001356996.2:c.244G>T NP_001343925.1:p.Ala82Ser
NM_001374335.1:c.283G>T NP_001361264.1:p.Ala95Ser
NM_001374336.1:c.244G>T NP_001361265.1:p.Ala82Ser
NM_001374337.1:c.244G>T NP_001361266.1:p.Ala82Ser
NM_001374338.1:c.382G>T NP_001361267.1:p.Ala128Ser
NM_001374339.1:c.181G>T NP_001361268.1:p.Ala61Ser
NM_016489.13:c.280G>T NP_057573.2:p.Ala94Ser
NM_001356996.3:c.244G>T NP_001343925.1:p.Ala82Ser
NM_016489.14:c.280G>T NP_057573.2:p.Ala94Ser