Canonical Allele Identifier: CA9043424
Community Standard Title: NM_024407.5(NDUFS7):c.525C>T (p.Pro175=)
Gene: NDUFS7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1393311C>T , CM000681.2:g.1393311C>T GRCh38
NC_000019.9:g.1393310C>T , CM000681.1:g.1393310C>T GRCh37
NC_000019.8:g.1344310C>T NCBI36
NG_008283.1:g.14428C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024407.5:c.525C>T MANE Select NP_077718.3:p.Pro175=
ENST00000233627.14:c.525C>T MANE Select ENSP00000233627.9:p.Pro175=
NM_001363602.1:c.525C>T NP_001350531.1:p.Pro175=
NM_001363602.2:c.525C>T NP_001350531.1:p.Pro175=
NM_024407.4:c.525C>T NP_077718.3:p.Pro175=
ENST00000233627.13:c.525C>T ENSP00000233627.9:p.Pro175=
ENST00000313408.11:c.525C>T ENSP00000364262.5:p.Pro175=
ENST00000414651.3:c.615C>T ENSP00000406630.2:p.Pro205=
ENST00000436115.6:n.2480C>T
ENST00000534853.5:c.*319C>T ENSP00000442822.1:n.*319C>T
ENST00000535382.1:n.777C>T
ENST00000538523.5:n.581C>T
ENST00000538662.5:n.620C>T
ENST00000538929.5:n.615C>T
ENST00000539480.5:c.525C>T ENSP00000443273.1:p.Pro175=
ENST00000540530.5:n.516C>T
ENST00000543289.5:n.1083C>T
ENST00000545446.5:n.816C>T
ENST00000546172.7:c.*521C>T ENSP00000467094.1:n.*521C>T
ENST00000546283.5:c.525C>T ENSP00000440348.1:p.Pro175=
ENST00000591358.1:n.1470C>T
ENST00000618074.4:c.532C>T ENSP00000477895.1:p.Arg178Cys
ENST00000620479.4:c.529C>T ENSP00000480984.1:p.Arg177Cys
ENST00000622587.4:n.589C>T
XM_005259556.3:c.525C>T XP_005259613.2:p.Pro175=
XM_024451499.1:c.546C>T XP_024307267.1:p.Pro182=