Canonical Allele Identifier: CA2317693306
Community Standard Title: NM_024407.5(NDUFS7):c.68C= (p.Pro23=)
Gene: NDUFS7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1388539C= , CM000681.2:g.1388539C= GRCh38
NC_000019.9:g.1388538C= , CM000681.1:g.1388538C= GRCh37
NC_000019.8:g.1339538C= NCBI36
NG_008283.1:g.9656C=

Transcript Alleles

HGVS Amino-acid Change
NM_024407.5:c.68C= MANE Select NP_077718.3:p.Pro23=
ENST00000233627.14:c.68C= MANE Select ENSP00000233627.9:p.Pro23=
NM_001363602.1:c.68C= NP_001350531.1:p.Pro23=
NM_001363602.2:c.68C= NP_001350531.1:p.Pro23=
NM_024407.4:c.68C= NP_077718.3:p.Pro23=
ENST00000233627.13:c.68C= ENSP00000233627.9:p.Pro23=
ENST00000313408.11:c.68C= ENSP00000364262.5:p.Pro23=
ENST00000414651.3:c.68C= ENSP00000406630.2:p.Pro23=
ENST00000436115.6:n.91C=
ENST00000534853.5:c.63C= ENSP00000442822.1:p.Pro21=
ENST00000535382.1:n.320C=
ENST00000538523.5:n.124C=
ENST00000538662.5:n.95C=
ENST00000538929.5:n.158C=
ENST00000539480.5:c.68C= ENSP00000443273.1:p.Pro23=
ENST00000539882.1:n.295C=
ENST00000540530.5:n.59C=
ENST00000543289.5:n.319C=
ENST00000545446.5:n.120C=
ENST00000546172.7:c.*64C= ENSP00000467094.1:n.*64C=
ENST00000546283.5:c.68C= ENSP00000440348.1:p.Pro23=
ENST00000618074.4:c.68C= ENSP00000477895.1:p.Pro23=
ENST00000620479.4:c.68C= ENSP00000480984.1:p.Pro23=
ENST00000622587.4:n.64C=
XM_005259556.3:c.68C= XP_005259613.2:p.Pro23=
XM_017026768.2:c.68C= XP_016882257.2:p.Pro23=