Canonical Allele Identifier: CA367192749

Gene: NT5C3A

Linked Data

• dbSNP Id: rs1348636770
• gnomAD v2: 7-33060938-A-G
• MyVariant Identifiers: chr7:g.33060938A>G (hg19) ; chr7:g.33021326A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33021326A>G , CM000669.2:g.33021326A>G	GRCh38
NC_000007.13:g.33060938A>G , CM000669.1:g.33060938A>G	GRCh37
NC_000007.12:g.33027463A>G	NCBI36
NG_015800.1:g.46472T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409467.6:c.248T>C	ENSP00000387166.1:p.Ile83Thr
ENST00000610140.7:c.386T>C MANE Select	ENSP00000476480.2:p.Ile129Thr
ENST00000643244.1:c.284T>C	ENSP00000496364.1:p.Ile95Thr
ENST00000242210.11:c.401T>C	ENSP00000242210.7:p.Ile134Thr
ENST00000381626.6:c.248T>C	ENSP00000371039.2:p.Ile83Thr
ENST00000396152.6:c.284T>C	ENSP00000379456.2:p.Ile95Thr
ENST00000405342.5:c.284T>C	ENSP00000385261.1:p.Ile95Thr
ENST00000409467.5:c.248T>C	ENSP00000387166.1:p.Ile83Thr
ENST00000409787.4:c.284T>C	ENSP00000387205.1:p.Ile95Thr
ENST00000456458.5:c.*291T>C	ENSP00000389676.2:n.*291T>C
ENST00000610140.5:c.386T>C	ENSP00000476480.1:p.Ile129Thr
ENST00000620705.4:c.401T>C	ENSP00000484415.1:p.Ile134Thr
NM_001002009.2:c.284T>C	NP_001002009.1:p.Ile95Thr
NM_001002010.2:c.401T>C	NP_001002010.1:p.Ile134Thr
NM_001166118.2:c.248T>C	NP_001159590.1:p.Ile83Thr
NM_016489.12:c.284T>C	NP_057573.2:p.Ile95Thr
XM_011515409.1:c.248T>C	XP_011513711.1:p.Ile83Thr
NM_001002010.3:c.386T>C	NP_001002010.2:p.Ile129Thr
NM_001356996.1:c.248T>C	NP_001343925.1:p.Ile83Thr
NM_001002009.3:c.284T>C	NP_001002009.1:p.Ile95Thr
NM_001002010.5:c.386T>C MANE Select	NP_001002010.2:p.Ile129Thr
NM_001166118.3:c.248T>C	NP_001159590.1:p.Ile83Thr
NM_001356996.2:c.248T>C	NP_001343925.1:p.Ile83Thr
NM_001374335.1:c.287T>C	NP_001361264.1:p.Ile96Thr
NM_001374336.1:c.248T>C	NP_001361265.1:p.Ile83Thr
NM_001374337.1:c.248T>C	NP_001361266.1:p.Ile83Thr
NM_001374338.1:c.386T>C	NP_001361267.1:p.Ile129Thr
NM_001374339.1:c.185T>C	NP_001361268.1:p.Ile62Thr
NM_016489.13:c.284T>C	NP_057573.2:p.Ile95Thr
NM_001356996.3:c.248T>C	NP_001343925.1:p.Ile83Thr
NM_016489.14:c.284T>C	NP_057573.2:p.Ile95Thr