Canonical Allele Identifier: CA504895166
Gene: NDUFS7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.1391034C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1391035C>T , CM000681.2:g.1391035C>T GRCh38
NC_000019.9:g.1391034C>T , CM000681.1:g.1391034C>T GRCh37
NC_000019.8:g.1342034C>T NCBI36
NG_008283.1:g.12152C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233627.14:c.393C>T MANE Select ENSP00000233627.9:p.Ala131=
ENST00000233627.13:c.393C>T ENSP00000233627.9:p.Ala131=
ENST00000313408.11:c.393C>T ENSP00000364262.5:p.Ala131=
ENST00000414651.3:c.483C>T ENSP00000406630.2:p.Ala161=
ENST00000436115.6:n.2348C>T
ENST00000534853.5:c.*187C>T ENSP00000442822.1:n.*187C>T
ENST00000535382.1:n.645C>T
ENST00000538523.5:n.449C>T
ENST00000538662.5:n.420C>T
ENST00000538929.5:n.483C>T
ENST00000539480.5:c.393C>T ENSP00000443273.1:p.Ala131=
ENST00000540530.5:n.384C>T
ENST00000543289.5:n.883C>T
ENST00000545446.5:n.684C>T
ENST00000546172.7:c.*389C>T ENSP00000467094.1:n.*389C>T
ENST00000546283.5:c.393C>T ENSP00000440348.1:p.Ala131=
ENST00000618074.4:c.393C>T ENSP00000477895.1:p.Ala131=
ENST00000620479.4:c.393C>T ENSP00000480984.1:p.Ala131=
ENST00000622587.4:n.389C>T
NM_024407.4:c.393C>T NP_077718.3:p.Ala131=
XM_005259556.3:c.393C>T XP_005259613.2:p.Ala131=
NM_001363602.1:c.393C>T NP_001350531.1:p.Ala131=
XM_024451499.1:c.414C>T XP_024307267.1:p.Ala138=
NM_024407.5:c.393C>T MANE Select NP_077718.3:p.Ala131=
NM_001363602.2:c.393C>T NP_001350531.1:p.Ala131=