Canonical Allele Identifier: CA381570020

Gene: NDUFS8

Linked Data

• MyVariant Identifiers: chr11:g.67803997C>A (hg19) ; chr11:g.68036530C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036530C>A , CM000673.2:g.68036530C>A	GRCh38
NC_000011.9:g.67803997C>A , CM000673.1:g.67803997C>A	GRCh37
NC_000011.8:g.67560573C>A	NCBI36
NG_007878.1:g.2515C>A , LRG_115:g.2515C>A
NG_017040.1:g.10914C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.570C>A MANE Select	ENSP00000315774.5:p.Asn190Lys
ENST00000313468.9:c.570C>A	ENSP00000315774.5:p.Asn190Lys
ENST00000524810.5:c.502C>A
ENST00000526446.5:c.*625C>A	ENSP00000433645.1:n.*625C>A
ENST00000528492.1:c.132C>A	ENSP00000432848.1:p.Asn44Lys
ENST00000531282.1:n.422C>A
NM_002496.3:c.570C>A	NP_002487.1:p.Asn190Lys
XM_005274013.1:c.570C>A	XP_005274070.1:p.Asn190Lys
XM_005274014.1:c.570C>A	XP_005274071.1:p.Asn190Lys
XM_005274015.1:c.450C>A	XP_005274072.1:p.Asn150Lys
XM_011545053.1:c.570C>A	XP_011543355.1:p.Asn190Lys
NM_002496.4:c.570C>A MANE Select	NP_002487.1:p.Asn190Lys