Canonical Allele Identifier: CA263578124

Gene: COQ6 ENTPD5

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73963145G>C , CM000676.2:g.73963145G>C	GRCh38
NC_000014.8:g.74429848G>C , CM000676.1:g.74429848G>C	GRCh37
NC_000014.7:g.73499601G>C	NCBI36
NG_032805.1:g.18212G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_182476.3:c.*146G>C (COQ6) MANE Select	NP_872282.1:n.*146G>C
ENST00000334571.7:c.*146G>C (COQ6) MANE Select	ENSP00000333946.2:n.*146G>C
NM_001249.4:c.*3783C>G (ENTPD5)	NP_001240.1:n.*3783C>G
NM_001321984.1:c.1201-1595C>G (ENTPD5)	NP_001308913.1:n.1201-1595C>G
NM_001321984.2:c.1201-1595C>G (ENTPD5)	NP_001308913.1:n.1201-1595C>G
NM_001321985.2:c.*3783C>G (ENTPD5)	NP_001308914.1:n.*3783C>G
NM_001321986.2:c.*3783C>G (ENTPD5)	NP_001308915.1:n.*3783C>G
NM_001321987.2:c.*3783C>G (ENTPD5)	NP_001308916.1:n.*3783C>G
NM_001321988.2:c.*3783C>G (ENTPD5)	NP_001308917.1:n.*3783C>G
NM_001330189.1:c.1201-3592C>G (ENTPD5)	NP_001317118.1:n.1201-3592C>G
NM_001330189.2:c.1201-3592C>G (ENTPD5)	NP_001317118.1:n.1201-3592C>G
NM_001382258.1:c.1200+6865C>G (ENTPD5)	NP_001369187.1:n.1200+6865C>G
NM_001382259.1:c.1201-3592C>G (ENTPD5)	NP_001369188.1:n.1201-3592C>G
NM_001382260.1:c.1201-3592C>G (ENTPD5)	NP_001369189.1:n.1201-3592C>G
NM_001382262.1:c.1200+6865C>G (ENTPD5)	NP_001369191.1:n.1200+6865C>G
NM_182480.3:c.*146G>C (COQ6)	NP_872286.2:n.*146G>C
ENST00000334571.6:c.*146G>C (COQ6)	ENSP00000333946.2:n.*146G>C
ENST00000334696.10:c.*3783C>G (ENTPD5)	ENSP00000335246.6:n.*3783C>G
ENST00000555829.5:c.225-1595C>G (ENTPD5)
ENST00000557325.5:c.1201-3592C>G (ENTPD5)	ENSP00000451810.1:n.1201-3592C>G
XM_006720325.2:c.1201-3592C>G (ENTPD5)	XP_006720388.1:n.1201-3592C>G
XM_006720325.3:c.1201-3592C>G (ENTPD5)	XP_006720388.1:n.1201-3592C>G
XM_011536808.2:c.*146G>C (COQ6)	XP_011535110.1:n.*146G>C
XM_011536809.3:c.*146G>C (COQ6)	XP_011535111.1:n.*146G>C
XM_017021351.2:c.*146G>C (COQ6)	XP_016876840.1:n.*146G>C
XM_017021352.2:c.*146G>C (COQ6)	XP_016876841.1:n.*146G>C
XM_017021814.1:c.1201-3592C>G (ENTPD5)	XP_016877303.1:n.1201-3592C>G
XM_017021817.1:c.1060-3592C>G (ENTPD5)	XP_016877306.1:n.1060-3592C>G
XM_024449619.1:c.*146G>C (COQ6)	XP_024305387.1:n.*146G>C