Canonical Allele Identifier: CA381569122

Gene: NDUFS8

Linked Data

• MyVariant Identifiers: chr11:g.67803783G>T (hg19) ; chr11:g.68036316G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036316G>T , CM000673.2:g.68036316G>T	GRCh38
NC_000011.9:g.67803783G>T , CM000673.1:g.67803783G>T	GRCh37
NC_000011.8:g.67560359G>T	NCBI36
NG_007878.1:g.2301G>T , LRG_115:g.2301G>T
NG_017040.1:g.10700G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.436G>T MANE Select	ENSP00000315774.5:p.Asp146Tyr
ENST00000313468.9:c.436G>T	ENSP00000315774.5:p.Asp146Tyr
ENST00000524810.5:c.368G>T
ENST00000525419.5:c.382G>T	ENSP00000433521.1:p.Asp128Tyr
ENST00000526339.5:c.436G>T	ENSP00000436287.1:p.Asp146Tyr
ENST00000526446.5:c.*491G>T	ENSP00000433645.1:n.*491G>T
ENST00000528492.1:c.-3G>T	ENSP00000432848.1:n.-3G>T
ENST00000531282.1:n.288G>T
NM_002496.3:c.436G>T	NP_002487.1:p.Asp146Tyr
XM_005274013.1:c.436G>T	XP_005274070.1:p.Asp146Tyr
XM_005274014.1:c.436G>T	XP_005274071.1:p.Asp146Tyr
XM_005274015.1:c.316G>T	XP_005274072.1:p.Asp106Tyr
XM_011545053.1:c.436G>T	XP_011543355.1:p.Asp146Tyr
NM_002496.4:c.436G>T MANE Select	NP_002487.1:p.Asp146Tyr