Canonical Allele Identifier: CA10633085

Gene: ENTPD7 CUTC COX15

Linked Data

• ClinVar Variation Id: 298371
• ClinVar RCV Id: RCV000377611
• dbSNP Id: rs886046596
• MyVariant Identifiers: chr10:g.101469416C>T (hg19) ; chr10:g.99709659C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99709659C>T , CM000672.2:g.99709659C>T	GRCh38
NC_000010.10:g.101469416C>T , CM000672.1:g.101469416C>T	GRCh37
NC_000010.9:g.101459406C>T	NCBI36
NG_008986.1:g.28008G>A , LRG_406:g.28008G>A
NG_053079.1:g.55283C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370489.5:c.*4976C>T (ENTPD7) MANE Select	ENSP00000359520.4:n.*4976C>T
ENST00000649102.1:c.*460+6689G>A	ENSP00000497114.1:n.*460+6689G>A
ENST00000493385.5:n.116+6986C>T (CUTC)
NM_004376.5:c.*3755G>A , LRG_406t2:c.*3755G>A (COX15)	NP_004367.2:n.*3755G>A
NM_020354.3:c.*4976C>T (ENTPD7)	NP_065087.1:n.*4976C>T
NM_078470.4:c.*4928G>A , LRG_406t1:c.*4928G>A (COX15)	NP_510870.1:n.*4928G>A
XM_005269539.3:c.1101+6689G>A (COX15)	XP_005269596.1:n.1101+6689G>A
XM_006717634.2:c.*49+6689G>A (COX15)	XP_006717697.1:n.*49+6689G>A
NM_001320974.1:c.1101+6689G>A (COX15)	NP_001307903.1:n.1101+6689G>A
NM_001349962.1:c.*4976C>T (ENTPD7)	NP_001336891.1:n.*4976C>T
NM_001349963.1:c.*4976C>T (ENTPD7)	NP_001336892.1:n.*4976C>T
NM_020354.4:c.*4976C>T (ENTPD7)	NP_065087.1:n.*4976C>T
XM_006717634.3:c.*49+6689G>A (COX15)	XP_006717697.1:n.*49+6689G>A
NM_020354.5:c.*4976C>T (ENTPD7) MANE Select	NP_065087.1:n.*4976C>T
NM_001320974.2:c.1101+6689G>A (COX15)	NP_001307903.1:n.1101+6689G>A
NM_001349962.2:c.*4976C>T (ENTPD7)	NP_001336891.1:n.*4976C>T
NM_001349963.2:c.*4976C>T (ENTPD7)	NP_001336892.1:n.*4976C>T