Canonical Allele Identifier: CA156259788

Gene: NT5C3A

Linked Data

• ClinVar Variation Id: 2593158
• ClinVar RCV Id: RCV003356372
• dbSNP Id: rs771148466
• gnomAD v4: 7-33021327-T-C
• MyVariant Identifiers: chr7:g.33060939T>C (hg19) ; chr7:g.33021327T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33021327T>C , CM000669.2:g.33021327T>C	GRCh38
NC_000007.13:g.33060939T>C , CM000669.1:g.33060939T>C	GRCh37
NC_000007.12:g.33027464T>C	NCBI36
NG_015800.1:g.46471A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409467.6:c.247A>G	ENSP00000387166.1:p.Ile83Val
ENST00000610140.7:c.385A>G MANE Select	ENSP00000476480.2:p.Ile129Val
ENST00000643244.1:c.283A>G	ENSP00000496364.1:p.Ile95Val
ENST00000242210.11:c.400A>G	ENSP00000242210.7:p.Ile134Val
ENST00000381626.6:c.247A>G	ENSP00000371039.2:p.Ile83Val
ENST00000396152.6:c.283A>G	ENSP00000379456.2:p.Ile95Val
ENST00000405342.5:c.283A>G	ENSP00000385261.1:p.Ile95Val
ENST00000409467.5:c.247A>G	ENSP00000387166.1:p.Ile83Val
ENST00000409787.4:c.283A>G	ENSP00000387205.1:p.Ile95Val
ENST00000456458.5:c.*290A>G	ENSP00000389676.2:n.*290A>G
ENST00000610140.5:c.385A>G	ENSP00000476480.1:p.Ile129Val
ENST00000620705.4:c.400A>G	ENSP00000484415.1:p.Ile134Val
NM_001002009.2:c.283A>G	NP_001002009.1:p.Ile95Val
NM_001002010.2:c.400A>G	NP_001002010.1:p.Ile134Val
NM_001166118.2:c.247A>G	NP_001159590.1:p.Ile83Val
NM_016489.12:c.283A>G	NP_057573.2:p.Ile95Val
XM_011515409.1:c.247A>G	XP_011513711.1:p.Ile83Val
NM_001002010.3:c.385A>G	NP_001002010.2:p.Ile129Val
NM_001356996.1:c.247A>G	NP_001343925.1:p.Ile83Val
NM_001002009.3:c.283A>G	NP_001002009.1:p.Ile95Val
NM_001002010.5:c.385A>G MANE Select	NP_001002010.2:p.Ile129Val
NM_001166118.3:c.247A>G	NP_001159590.1:p.Ile83Val
NM_001356996.2:c.247A>G	NP_001343925.1:p.Ile83Val
NM_001374335.1:c.286A>G	NP_001361264.1:p.Ile96Val
NM_001374336.1:c.247A>G	NP_001361265.1:p.Ile83Val
NM_001374337.1:c.247A>G	NP_001361266.1:p.Ile83Val
NM_001374338.1:c.385A>G	NP_001361267.1:p.Ile129Val
NM_001374339.1:c.184A>G	NP_001361268.1:p.Ile62Val
NM_016489.13:c.283A>G	NP_057573.2:p.Ile95Val
NM_001356996.3:c.247A>G	NP_001343925.1:p.Ile83Val
NM_016489.14:c.283A>G	NP_057573.2:p.Ile95Val