Canonical Allele Identifier: CA381569858

Gene: NDUFS8

Linked Data

• MyVariant Identifiers: chr11:g.67803980A>C (hg19) ; chr11:g.68036513A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036513A>C , CM000673.2:g.68036513A>C	GRCh38
NC_000011.9:g.67803980A>C , CM000673.1:g.67803980A>C	GRCh37
NC_000011.8:g.67560556A>C	NCBI36
NG_007878.1:g.2498A>C , LRG_115:g.2498A>C
NG_017040.1:g.10897A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000313468.10:c.553A>C MANE Select	ENSP00000315774.5:p.Lys185Gln
ENST00000313468.9:c.553A>C	ENSP00000315774.5:p.Lys185Gln
ENST00000524810.5:c.485A>C
ENST00000526339.5:c.553A>C
ENST00000526446.5:c.*608A>C	ENSP00000433645.1:n.*608A>C
ENST00000528492.1:c.115A>C	ENSP00000432848.1:p.Lys39Gln
ENST00000531282.1:n.405A>C
NM_002496.3:c.553A>C	NP_002487.1:p.Lys185Gln
XM_005274013.1:c.553A>C	XP_005274070.1:p.Lys185Gln
XM_005274014.1:c.553A>C	XP_005274071.1:p.Lys185Gln
XM_005274015.1:c.433A>C	XP_005274072.1:p.Lys145Gln
XM_011545053.1:c.553A>C	XP_011543355.1:p.Lys185Gln
NM_002496.4:c.553A>C MANE Select	NP_002487.1:p.Lys185Gln