Canonical Allele Identifier: CA9043133

Gene: NDUFS7

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1388868C>T , CM000681.2:g.1388868C>T	GRCh38
NC_000019.9:g.1388867C>T , CM000681.1:g.1388867C>T	GRCh37
NC_000019.8:g.1339867C>T	NCBI36
NG_008283.1:g.9985C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024407.5:c.158C>T MANE Select	NP_077718.3:p.Ala53Val
ENST00000233627.14:c.158C>T MANE Select	ENSP00000233627.9:p.Ala53Val
NM_001363602.1:c.158C>T	NP_001350531.1:p.Ala53Val
NM_001363602.2:c.158C>T	NP_001350531.1:p.Ala53Val
NM_024407.4:c.158C>T	NP_077718.3:p.Ala53Val
ENST00000233627.13:c.158C>T	ENSP00000233627.9:p.Ala53Val
ENST00000313408.11:c.158C>T	ENSP00000364262.5:p.Ala53Val
ENST00000414651.3:c.248C>T	ENSP00000406630.2:p.Ala83Val
ENST00000436115.6:n.181C>T
ENST00000534853.5:c.153C>T	ENSP00000442822.1:p.Gly51=
ENST00000535382.1:n.410C>T
ENST00000538523.5:n.214C>T
ENST00000538662.5:n.185C>T
ENST00000538929.5:n.248C>T
ENST00000539480.5:c.158C>T	ENSP00000443273.1:p.Ala53Val
ENST00000540530.5:n.149C>T
ENST00000543289.5:n.648C>T
ENST00000545446.5:n.449C>T
ENST00000546172.7:c.*154C>T	ENSP00000467094.1:n.*154C>T
ENST00000546283.5:c.158C>T	ENSP00000440348.1:p.Ala53Val
ENST00000618074.4:c.158C>T	ENSP00000477895.1:p.Ala53Val
ENST00000620479.4:c.158C>T	ENSP00000480984.1:p.Ala53Val
ENST00000622587.4:n.154C>T
XM_005259556.3:c.158C>T	XP_005259613.2:p.Ala53Val
XM_017026768.2:c.158C>T	XP_016882257.2:p.Ala53Val
XM_024451499.1:c.179C>T	XP_024307267.1:p.Ala60Val