Canonical Allele Identifier: CA4213445

Gene: NT5C3A

Linked Data

• dbSNP Id: rs771812581
• ExAC: 7:33060940 A / T
• gnomAD v2: 7-33060940-A-T
• gnomAD v4: 7-33021328-A-T
• MyVariant Identifiers: chr7:g.33060940A>T (hg19) ; chr7:g.33021328A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33021328A>T , CM000669.2:g.33021328A>T	GRCh38
NC_000007.13:g.33060940A>T , CM000669.1:g.33060940A>T	GRCh37
NC_000007.12:g.33027465A>T	NCBI36
NG_015800.1:g.46470T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000409467.6:c.246T>A	ENSP00000387166.1:p.Ala82=
ENST00000610140.7:c.384T>A MANE Select	ENSP00000476480.2:p.Ala128=
ENST00000643244.1:c.282T>A	ENSP00000496364.1:p.Ala94=
ENST00000242210.11:c.399T>A	ENSP00000242210.7:p.Ala133=
ENST00000381626.6:c.246T>A	ENSP00000371039.2:p.Ala82=
ENST00000396152.6:c.282T>A	ENSP00000379456.2:p.Ala94=
ENST00000405342.5:c.282T>A	ENSP00000385261.1:p.Ala94=
ENST00000409467.5:c.246T>A	ENSP00000387166.1:p.Ala82=
ENST00000409787.4:c.282T>A	ENSP00000387205.1:p.Ala94=
ENST00000456458.5:c.*289T>A	ENSP00000389676.2:n.*289T>A
ENST00000610140.5:c.384T>A	ENSP00000476480.1:p.Ala128=
ENST00000620705.4:c.399T>A	ENSP00000484415.1:p.Ala133=
NM_001002009.2:c.282T>A	NP_001002009.1:p.Ala94=
NM_001002010.2:c.399T>A	NP_001002010.1:p.Ala133=
NM_001166118.2:c.246T>A	NP_001159590.1:p.Ala82=
NM_016489.12:c.282T>A	NP_057573.2:p.Ala94=
XM_011515409.1:c.246T>A	XP_011513711.1:p.Ala82=
NM_001002010.3:c.384T>A	NP_001002010.2:p.Ala128=
NM_001356996.1:c.246T>A	NP_001343925.1:p.Ala82=
NM_001002009.3:c.282T>A	NP_001002009.1:p.Ala94=
NM_001002010.5:c.384T>A MANE Select	NP_001002010.2:p.Ala128=
NM_001166118.3:c.246T>A	NP_001159590.1:p.Ala82=
NM_001356996.2:c.246T>A	NP_001343925.1:p.Ala82=
NM_001374335.1:c.285T>A	NP_001361264.1:p.Ala95=
NM_001374336.1:c.246T>A	NP_001361265.1:p.Ala82=
NM_001374337.1:c.246T>A	NP_001361266.1:p.Ala82=
NM_001374338.1:c.384T>A	NP_001361267.1:p.Ala128=
NM_001374339.1:c.183T>A	NP_001361268.1:p.Ala61=
NM_016489.13:c.282T>A	NP_057573.2:p.Ala94=
NM_001356996.3:c.246T>A	NP_001343925.1:p.Ala82=
NM_016489.14:c.282T>A	NP_057573.2:p.Ala94=