Canonical Allele Identifier: CA10633079

Gene: ENTPD7 CUTC COX15

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99708975C>T , CM000672.2:g.99708975C>T	GRCh38
NC_000010.10:g.101468732C>T , CM000672.1:g.101468732C>T	GRCh37
NC_000010.9:g.101458722C>T	NCBI36
NG_008986.1:g.28692G>A , LRG_406:g.28692G>A
NG_053079.1:g.54599C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020354.5:c.*4292C>T (ENTPD7) MANE Select	NP_065087.1:n.*4292C>T
ENST00000370489.5:c.*4292C>T (ENTPD7) MANE Select	ENSP00000359520.4:n.*4292C>T
NM_001320974.1:c.1101+7373G>A (COX15)	NP_001307903.1:n.1101+7373G>A
NM_001320974.2:c.1101+7373G>A (COX15)	NP_001307903.1:n.1101+7373G>A
NM_001349962.1:c.*4292C>T (ENTPD7)	NP_001336891.1:n.*4292C>T
NM_001349962.2:c.*4292C>T (ENTPD7)	NP_001336891.1:n.*4292C>T
NM_001349963.1:c.*4292C>T (ENTPD7)	NP_001336892.1:n.*4292C>T
NM_001349963.2:c.*4292C>T (ENTPD7)	NP_001336892.1:n.*4292C>T
NM_004376.5:c.*4439G>A , LRG_406t2:c.*4439G>A (COX15)	NP_004367.2:n.*4439G>A
NM_020354.3:c.*4292C>T (ENTPD7)	NP_065087.1:n.*4292C>T
NM_020354.4:c.*4292C>T (ENTPD7)	NP_065087.1:n.*4292C>T
NM_078470.4:c.*5612G>A , LRG_406t1:c.*5612G>A (COX15)	NP_510870.1:n.*5612G>A
ENST00000493385.5:n.116+6302C>T (CUTC)
ENST00000649102.1:c.*460+7373G>A	ENSP00000497114.1:n.*460+7373G>A
XM_005269539.3:c.1101+7373G>A (COX15)	XP_005269596.1:n.1101+7373G>A
XM_006717634.2:c.*49+7373G>A (COX15)	XP_006717697.1:n.*49+7373G>A
XM_006717634.3:c.*49+7373G>A (COX15)	XP_006717697.1:n.*49+7373G>A