Canonical Allele Identifier: CA367191613

Gene: NT5C3A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33017446T>A , CM000669.2:g.33017446T>A	GRCh38
NC_000007.13:g.33057058T>A , CM000669.1:g.33057058T>A	GRCh37
NC_000007.12:g.33023583T>A	NCBI36
NG_015800.1:g.50352A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001002010.5:c.686A>T MANE Select	NP_001002010.2:p.Asp229Val
ENST00000610140.7:c.686A>T MANE Select	ENSP00000476480.2:p.Asp229Val
NM_001002009.2:c.584A>T	NP_001002009.1:p.Asp195Val
NM_001002009.3:c.584A>T	NP_001002009.1:p.Asp195Val
NM_001002010.2:c.701A>T	NP_001002010.1:p.Asp234Val
NM_001002010.3:c.686A>T	NP_001002010.2:p.Asp229Val
NM_001166118.2:c.548A>T	NP_001159590.1:p.Asp183Val
NM_001166118.3:c.548A>T	NP_001159590.1:p.Asp183Val
NM_001356996.1:c.548A>T	NP_001343925.1:p.Asp183Val
NM_001356996.2:c.548A>T	NP_001343925.1:p.Asp183Val
NM_001356996.3:c.548A>T	NP_001343925.1:p.Asp183Val
NM_001374335.1:c.587A>T	NP_001361264.1:p.Asp196Val
NM_001374336.1:c.548A>T	NP_001361265.1:p.Asp183Val
NM_001374337.1:c.548A>T	NP_001361266.1:p.Asp183Val
NM_001374338.1:c.686A>T	NP_001361267.1:p.Asp229Val
NM_001374339.1:c.485A>T	NP_001361268.1:p.Asp162Val
NM_016489.12:c.584A>T	NP_057573.2:p.Asp195Val
NM_016489.13:c.584A>T	NP_057573.2:p.Asp195Val
NM_016489.14:c.584A>T	NP_057573.2:p.Asp195Val
ENST00000242210.11:c.701A>T	ENSP00000242210.7:p.Asp234Val
ENST00000381626.6:c.548A>T	ENSP00000371039.2:p.Asp183Val
ENST00000396152.6:c.584A>T	ENSP00000379456.2:p.Asp195Val
ENST00000405342.5:c.584A>T	ENSP00000385261.1:p.Asp195Val
ENST00000409467.5:c.548A>T	ENSP00000387166.1:p.Asp183Val
ENST00000409467.6:c.548A>T	ENSP00000387166.1:p.Asp183Val
ENST00000409787.4:c.584A>T	ENSP00000387205.1:p.Asp195Val
ENST00000456458.5:c.*591A>T	ENSP00000389676.2:n.*591A>T
ENST00000610140.5:c.686A>T	ENSP00000476480.1:p.Asp229Val
ENST00000620705.4:c.701A>T	ENSP00000484415.1:p.Asp234Val
ENST00000643244.1:c.584A>T	ENSP00000496364.1:p.Asp195Val
XM_011515409.1:c.548A>T	XP_011513711.1:p.Asp183Val