Canonical Allele Identifier: CA402983815

Gene: NDUFS7

Linked Data

• MyVariant Identifiers: chr19:g.1388882G>T (hg19) ; chr19:g.1388883G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1388883G>T , CM000681.2:g.1388883G>T	GRCh38
NC_000019.9:g.1388882G>T , CM000681.1:g.1388882G>T	GRCh37
NC_000019.8:g.1339882G>T	NCBI36
NG_008283.1:g.10000G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.173G>T MANE Select	ENSP00000233627.9:p.Ser58Ile
ENST00000233627.13:c.173G>T	ENSP00000233627.9:p.Ser58Ile
ENST00000313408.11:c.173G>T	ENSP00000364262.5:p.Ser58Ile
ENST00000414651.3:c.263G>T	ENSP00000406630.2:p.Ser88Ile
ENST00000436115.6:n.196G>T
ENST00000534853.5:c.168G>T	ENSP00000442822.1:p.Gln56His
ENST00000535382.1:n.425G>T
ENST00000538523.5:n.229G>T
ENST00000538662.5:n.200G>T
ENST00000538929.5:n.263G>T
ENST00000539480.5:c.173G>T	ENSP00000443273.1:p.Ser58Ile
ENST00000540530.5:n.164G>T
ENST00000543289.5:n.663G>T
ENST00000545446.5:n.464G>T
ENST00000546172.7:c.*169G>T	ENSP00000467094.1:n.*169G>T
ENST00000546283.5:c.173G>T	ENSP00000440348.1:p.Ser58Ile
ENST00000618074.4:c.173G>T	ENSP00000477895.1:p.Ser58Ile
ENST00000620479.4:c.173G>T	ENSP00000480984.1:p.Ser58Ile
ENST00000622587.4:n.169G>T
NM_024407.4:c.173G>T	NP_077718.3:p.Ser58Ile
XM_005259556.3:c.173G>T	XP_005259613.2:p.Ser58Ile
NM_001363602.1:c.173G>T	NP_001350531.1:p.Ser58Ile
XM_017026768.2:c.173G>T	XP_016882257.2:p.Ser58Ile
XM_024451499.1:c.194G>T	XP_024307267.1:p.Ser65Ile
NM_024407.5:c.173G>T MANE Select	NP_077718.3:p.Ser58Ile
NM_001363602.2:c.173G>T	NP_001350531.1:p.Ser58Ile