Canonical Allele Identifier: CA402985123

Gene: NDUFS7

Linked Data

• MyVariant Identifiers: chr19:g.1391008G>T (hg19) ; chr19:g.1391009G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1391009G>T , CM000681.2:g.1391009G>T	GRCh38
NC_000019.9:g.1391008G>T , CM000681.1:g.1391008G>T	GRCh37
NC_000019.8:g.1342008G>T	NCBI36
NG_008283.1:g.12126G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.367G>T MANE Select	ENSP00000233627.9:p.Ala123Ser
ENST00000233627.13:c.367G>T	ENSP00000233627.9:p.Ala123Ser
ENST00000313408.11:c.367G>T	ENSP00000364262.5:p.Ala123Ser
ENST00000414651.3:c.457G>T	ENSP00000406630.2:p.Ala153Ser
ENST00000436115.6:n.2322G>T
ENST00000534853.5:c.*161G>T	ENSP00000442822.1:n.*161G>T
ENST00000535382.1:n.619G>T
ENST00000538523.5:n.423G>T
ENST00000538662.5:n.394G>T
ENST00000538929.5:n.457G>T
ENST00000539480.5:c.367G>T	ENSP00000443273.1:p.Ala123Ser
ENST00000540530.5:n.358G>T
ENST00000543289.5:n.857G>T
ENST00000545446.5:n.658G>T
ENST00000546172.7:c.*363G>T	ENSP00000467094.1:n.*363G>T
ENST00000546283.5:c.367G>T	ENSP00000440348.1:p.Ala123Ser
ENST00000618074.4:c.367G>T	ENSP00000477895.1:p.Ala123Ser
ENST00000620479.4:c.367G>T	ENSP00000480984.1:p.Ala123Ser
ENST00000622587.4:n.363G>T
NM_024407.4:c.367G>T	NP_077718.3:p.Ala123Ser
XM_005259556.3:c.367G>T	XP_005259613.2:p.Ala123Ser
NM_001363602.1:c.367G>T	NP_001350531.1:p.Ala123Ser
XM_024451499.1:c.388G>T	XP_024307267.1:p.Ala130Ser
NM_024407.5:c.367G>T MANE Select	NP_077718.3:p.Ala123Ser
NM_001363602.2:c.367G>T	NP_001350531.1:p.Ala123Ser