Canonical Allele Identifier: CA381570046

Gene: NDUFS8

Linked Data

• MyVariant Identifiers: chr11:g.67804000C>G (hg19) ; chr11:g.68036533C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036533C>G , CM000673.2:g.68036533C>G	GRCh38
NC_000011.9:g.67804000C>G , CM000673.1:g.67804000C>G	GRCh37
NC_000011.8:g.67560576C>G	NCBI36
NG_007878.1:g.2518C>G , LRG_115:g.2518C>G
NG_017040.1:g.10917C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.573C>G MANE Select	ENSP00000315774.5:p.Asn191Lys
ENST00000313468.9:c.573C>G	ENSP00000315774.5:p.Asn191Lys
ENST00000524810.5:c.505C>G
ENST00000526446.5:c.*628C>G	ENSP00000433645.1:n.*628C>G
ENST00000528492.1:c.135C>G	ENSP00000432848.1:p.Asn45Lys
ENST00000531282.1:n.425C>G
NM_002496.3:c.573C>G	NP_002487.1:p.Asn191Lys
XM_005274013.1:c.573C>G	XP_005274070.1:p.Asn191Lys
XM_005274014.1:c.573C>G	XP_005274071.1:p.Asn191Lys
XM_005274015.1:c.453C>G	XP_005274072.1:p.Asn151Lys
XM_011545053.1:c.573C>G	XP_011543355.1:p.Asn191Lys
NM_002496.4:c.573C>G MANE Select	NP_002487.1:p.Asn191Lys