Canonical Allele Identifier: CA4213451

Gene: NT5C3A

Linked Data

• dbSNP Id: rs764623573
• ExAC: 7:33060966 A / G
• gnomAD v2: 7-33060966-A-G
• gnomAD v3: 7-33021354-A-G
• gnomAD v4: 7-33021354-A-G
• MyVariant Identifiers: chr7:g.33060966A>G (hg19) ; chr7:g.33021354A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33021354A>G , CM000669.2:g.33021354A>G	GRCh38
NC_000007.13:g.33060966A>G , CM000669.1:g.33060966A>G	GRCh37
NC_000007.12:g.33027491A>G	NCBI36
NG_015800.1:g.46444T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409467.6:c.220T>C	ENSP00000387166.1:p.Leu74=
ENST00000610140.7:c.358T>C MANE Select	ENSP00000476480.2:p.Leu120=
ENST00000643244.1:c.256T>C	ENSP00000496364.1:p.Leu86=
ENST00000242210.11:c.373T>C	ENSP00000242210.7:p.Leu125=
ENST00000381626.6:c.220T>C	ENSP00000371039.2:p.Leu74=
ENST00000396152.6:c.256T>C	ENSP00000379456.2:p.Leu86=
ENST00000405342.5:c.256T>C	ENSP00000385261.1:p.Leu86=
ENST00000409467.5:c.220T>C	ENSP00000387166.1:p.Leu74=
ENST00000409787.4:c.256T>C	ENSP00000387205.1:p.Leu86=
ENST00000456458.5:c.*263T>C	ENSP00000389676.2:n.*263T>C
ENST00000610140.5:c.358T>C	ENSP00000476480.1:p.Leu120=
ENST00000620705.4:c.373T>C	ENSP00000484415.1:p.Leu125=
NM_001002009.2:c.256T>C	NP_001002009.1:p.Leu86=
NM_001002010.2:c.373T>C	NP_001002010.1:p.Leu125=
NM_001166118.2:c.220T>C	NP_001159590.1:p.Leu74=
NM_016489.12:c.256T>C	NP_057573.2:p.Leu86=
XM_011515409.1:c.220T>C	XP_011513711.1:p.Leu74=
NM_001002010.3:c.358T>C	NP_001002010.2:p.Leu120=
NM_001356996.1:c.220T>C	NP_001343925.1:p.Leu74=
NM_001002009.3:c.256T>C	NP_001002009.1:p.Leu86=
NM_001002010.5:c.358T>C MANE Select	NP_001002010.2:p.Leu120=
NM_001166118.3:c.220T>C	NP_001159590.1:p.Leu74=
NM_001356996.2:c.220T>C	NP_001343925.1:p.Leu74=
NM_001374335.1:c.259T>C	NP_001361264.1:p.Leu87=
NM_001374336.1:c.220T>C	NP_001361265.1:p.Leu74=
NM_001374337.1:c.220T>C	NP_001361266.1:p.Leu74=
NM_001374338.1:c.358T>C	NP_001361267.1:p.Leu120=
NM_001374339.1:c.157T>C	NP_001361268.1:p.Leu53=
NM_016489.13:c.256T>C	NP_057573.2:p.Leu86=
NM_001356996.3:c.220T>C	NP_001343925.1:p.Leu74=
NM_016489.14:c.256T>C	NP_057573.2:p.Leu86=