Canonical Allele Identifier: CA381569207

Gene: NDUFS8

Linked Data

• MyVariant Identifiers: chr11:g.67803794G>C (hg19) ; chr11:g.68036327G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036327G>C , CM000673.2:g.68036327G>C	GRCh38
NC_000011.9:g.67803794G>C , CM000673.1:g.67803794G>C	GRCh37
NC_000011.8:g.67560370G>C	NCBI36
NG_007878.1:g.2312G>C , LRG_115:g.2312G>C
NG_017040.1:g.10711G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.447G>C MANE Select	ENSP00000315774.5:p.Lys149Asn
ENST00000313468.9:c.447G>C	ENSP00000315774.5:p.Lys149Asn
ENST00000524810.5:c.379G>C
ENST00000525419.5:c.393G>C	ENSP00000433521.1:p.Lys131Asn
ENST00000526339.5:c.447G>C	ENSP00000436287.1:p.Lys149Asn
ENST00000526446.5:c.*502G>C	ENSP00000433645.1:n.*502G>C
ENST00000528492.1:c.9G>C	ENSP00000432848.1:p.Lys3Asn
ENST00000531282.1:n.299G>C
NM_002496.3:c.447G>C	NP_002487.1:p.Lys149Asn
XM_005274013.1:c.447G>C	XP_005274070.1:p.Lys149Asn
XM_005274014.1:c.447G>C	XP_005274071.1:p.Lys149Asn
XM_005274015.1:c.327G>C	XP_005274072.1:p.Lys109Asn
XM_011545053.1:c.447G>C	XP_011543355.1:p.Lys149Asn
NM_002496.4:c.447G>C MANE Select	NP_002487.1:p.Lys149Asn