Canonical Allele Identifier: CA381599123

Gene: NDUFS8

Linked Data

• MyVariant Identifiers: chr11:g.67800424G>C (hg19) ; chr11:g.68032957G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68032957G>C , CM000673.2:g.68032957G>C	GRCh38
NC_000011.9:g.67800424G>C , CM000673.1:g.67800424G>C	GRCh37
NC_000011.8:g.67557000G>C	NCBI36
NG_017040.1:g.7341G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.144G>C MANE Select	ENSP00000315774.5:p.Met48Ile
ENST00000313468.9:c.144G>C	ENSP00000315774.5:p.Met48Ile
ENST00000432321.6:n.261G>C
ENST00000453471.6:c.144G>C	ENSP00000403972.2:p.Met48Ile
ENST00000525419.5:c.90G>C	ENSP00000433521.1:p.Met30Ile
ENST00000525628.1:c.144G>C	ENSP00000432968.1:p.Met48Ile
ENST00000526339.5:c.144G>C	ENSP00000436287.1:p.Met48Ile
ENST00000526446.5:c.*199G>C	ENSP00000433645.1:n.*199G>C
ENST00000528492.1:c.-67+2224G>C	ENSP00000432848.1:n.-67+2224G>C
ENST00000529645.1:c.322G>C	ENSP00000431293.1:n.322G>C
ENST00000531228.1:c.199G>C	ENSP00000433054.1:p.Glu67Gln
ENST00000532399.1:n.751G>C
NM_002496.3:c.144G>C	NP_002487.1:p.Met48Ile
XM_005274013.1:c.144G>C	XP_005274070.1:p.Met48Ile
XM_005274014.1:c.144G>C	XP_005274071.1:p.Met48Ile
XM_005274015.1:c.24G>C	XP_005274072.1:p.Met8Ile
XM_011545053.1:c.144G>C	XP_011543355.1:p.Met48Ile
NM_002496.4:c.144G>C MANE Select	NP_002487.1:p.Met48Ile