Canonical Allele Identifier: CA116883
Gene: NT5C3A HGNC NCBI

Linked Data

ClinVar Variation Id: 4480
ClinVar RCV Id: RCV000004737
dbSNP Id: rs104894026
gnomAD v2: 7-33057113-G-A
gnomAD v3: 7-33017501-G-A
gnomAD v4: 7-33017501-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.33017501G>A , CM000669.2:g.33017501G>A GRCh38
NC_000007.13:g.33057113G>A , CM000669.1:g.33057113G>A GRCh37
NC_000007.12:g.33023638G>A NCBI36
NG_015800.1:g.50297C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000409467.6:c.493C>T ENSP00000387166.1:p.Gln165Ter
ENST00000610140.7:c.631C>T MANE Select ENSP00000476480.2:p.Gln211Ter
ENST00000643244.1:c.529C>T ENSP00000496364.1:p.Gln177Ter
ENST00000242210.11:c.646C>T ENSP00000242210.7:p.Gln216Ter
ENST00000381626.6:c.493C>T ENSP00000371039.2:p.Gln165Ter
ENST00000396152.6:c.529C>T ENSP00000379456.2:p.Gln177Ter
ENST00000405342.5:c.529C>T ENSP00000385261.1:p.Gln177Ter
ENST00000409467.5:c.493C>T ENSP00000387166.1:p.Gln165Ter
ENST00000409787.4:c.529C>T ENSP00000387205.1:p.Gln177Ter
ENST00000456458.5:c.*536C>T ENSP00000389676.2:n.*536C>T
ENST00000610140.5:c.631C>T ENSP00000476480.1:p.Gln211Ter
ENST00000620705.4:c.646C>T ENSP00000484415.1:p.Gln216Ter
NM_001002009.2:c.529C>T NP_001002009.1:p.Gln177Ter
NM_001002010.2:c.646C>T NP_001002010.1:p.Gln216Ter
NM_001166118.2:c.493C>T NP_001159590.1:p.Gln165Ter
NM_016489.12:c.529C>T NP_057573.2:p.Gln177Ter
XM_011515409.1:c.493C>T XP_011513711.1:p.Gln165Ter
NM_001002010.3:c.631C>T NP_001002010.2:p.Gln211Ter
NM_001356996.1:c.493C>T NP_001343925.1:p.Gln165Ter
NM_001002009.3:c.529C>T NP_001002009.1:p.Gln177Ter
NM_001002010.5:c.631C>T MANE Select NP_001002010.2:p.Gln211Ter
NM_001166118.3:c.493C>T NP_001159590.1:p.Gln165Ter
NM_001356996.2:c.493C>T NP_001343925.1:p.Gln165Ter
NM_001374335.1:c.532C>T NP_001361264.1:p.Gln178Ter
NM_001374336.1:c.493C>T NP_001361265.1:p.Gln165Ter
NM_001374337.1:c.493C>T NP_001361266.1:p.Gln165Ter
NM_001374338.1:c.631C>T NP_001361267.1:p.Gln211Ter
NM_001374339.1:c.430C>T NP_001361268.1:p.Gln144Ter
NM_016489.13:c.529C>T NP_057573.2:p.Gln177Ter
NM_001356996.3:c.493C>T NP_001343925.1:p.Gln165Ter
NM_016489.14:c.529C>T NP_057573.2:p.Gln177Ter