Canonical Allele Identifier: CA4213444

Gene: NT5C3A

Linked Data

• dbSNP Id: rs757016387
• ExAC: 7:33060933 CT / C
• gnomAD v2: 7-33060933-CT-C
• gnomAD v4: 7-33021321-CT-C
• MyVariant Identifiers: chr7:g.33060934del (hg19) ; chr7:g.33021322del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33021323del , CM000669.2:g.33021323del	GRCh38
NC_000007.13:g.33060935del , CM000669.1:g.33060935del	GRCh37
NC_000007.12:g.33027460del	NCBI36
NG_015800.1:g.46476del

Transcript Alleles

HGVS	Amino-acid change
ENST00000409467.6:c.252del	ENSP00000387166.1:p.Val85LeufsTer7
ENST00000610140.7:c.390del MANE Select	ENSP00000476480.2:p.Val131LeufsTer7
ENST00000643244.1:c.288del	ENSP00000496364.1:p.Val97LeufsTer7
ENST00000242210.11:c.405del	ENSP00000242210.7:p.Val136LeufsTer7
ENST00000381626.6:c.252del	ENSP00000371039.2:p.Val85LeufsTer7
ENST00000396152.6:c.288del	ENSP00000379456.2:p.Val97LeufsTer7
ENST00000405342.5:c.288del	ENSP00000385261.1:p.Val97LeufsTer7
ENST00000409467.5:c.252del	ENSP00000387166.1:p.Val85LeufsTer7
ENST00000409787.4:c.288del	ENSP00000387205.1:p.Val97LeufsTer7
ENST00000456458.5:c.*295del	ENSP00000389676.2:n.*295del
ENST00000610140.5:c.390del	ENSP00000476480.1:p.Val131LeufsTer7
ENST00000620705.4:c.405del	ENSP00000484415.1:p.Val136LeufsTer7
NM_001002009.2:c.288del	NP_001002009.1:p.Val97LeufsTer7
NM_001002010.2:c.405del	NP_001002010.1:p.Val136LeufsTer7
NM_001166118.2:c.252del	NP_001159590.1:p.Val85LeufsTer7
NM_016489.12:c.288del	NP_057573.2:p.Val97LeufsTer7
XM_011515409.1:c.252del	XP_011513711.1:p.Val85LeufsTer7
NM_001002010.3:c.390del	NP_001002010.2:p.Val131LeufsTer7
NM_001356996.1:c.252del	NP_001343925.1:p.Val85LeufsTer7
NM_001002009.3:c.288del	NP_001002009.1:p.Val97LeufsTer7
NM_001002010.5:c.390del MANE Select	NP_001002010.2:p.Val131LeufsTer7
NM_001166118.3:c.252del	NP_001159590.1:p.Val85LeufsTer7
NM_001356996.2:c.252del	NP_001343925.1:p.Val85LeufsTer7
NM_001374335.1:c.291del	NP_001361264.1:p.Val98LeufsTer7
NM_001374336.1:c.252del	NP_001361265.1:p.Val85LeufsTer7
NM_001374337.1:c.252del	NP_001361266.1:p.Val85LeufsTer7
NM_001374338.1:c.390del	NP_001361267.1:p.Val131LeufsTer7
NM_001374339.1:c.189del	NP_001361268.1:p.Val64LeufsTer7
NM_016489.13:c.288del	NP_057573.2:p.Val97LeufsTer7
NM_001356996.3:c.252del	NP_001343925.1:p.Val85LeufsTer7
NM_016489.14:c.288del	NP_057573.2:p.Val97LeufsTer7