Canonical Allele Identifier: CA350043421

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.206992619A>G (hg19) ; chr2:g.206127895A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127895A>G , CM000664.2:g.206127895A>G	GRCh38
NC_000002.11:g.206992619A>G , CM000664.1:g.206992619A>G	GRCh37
NC_000002.10:g.206700864A>G	NCBI36
NG_009248.1:g.36569T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1786T>C MANE Select	ENSP00000233190.5:p.Tyr596His
ENST00000233190.10:c.1786T>C	ENSP00000233190.5:p.Tyr596His
ENST00000423725.5:c.1615T>C	ENSP00000397760.1:p.Tyr539His
ENST00000432169.5:c.1453T>C	ENSP00000409689.1:p.Tyr485His
ENST00000440274.5:c.1678T>C	ENSP00000409766.1:p.Tyr560His
ENST00000449699.5:c.1786T>C	ENSP00000399912.1:p.Tyr596His
ENST00000455934.6:c.1828T>C	ENSP00000392709.2:p.Tyr610His
ENST00000457011.5:c.1438T>C	ENSP00000400976.1:p.Tyr480His
ENST00000498520.1:n.258T>C
NM_001199981.1:c.1678T>C	NP_001186910.1:p.Tyr560His
NM_001199982.1:c.1453T>C	NP_001186911.1:p.Tyr485His
NM_001199983.1:c.1615T>C	NP_001186912.1:p.Tyr539His
NM_001199984.1:c.1828T>C	NP_001186913.1:p.Tyr610His
NM_005006.6:c.1786T>C	NP_004997.4:p.Tyr596His
XM_017004188.2:c.1027T>C	XP_016859677.1:p.Tyr343His
NM_001199981.2:c.1678T>C	NP_001186910.1:p.Tyr560His
NM_001199982.2:c.1453T>C	NP_001186911.1:p.Tyr485His
NM_001199983.2:c.1615T>C	NP_001186912.1:p.Tyr539His
NM_005006.7:c.1786T>C MANE Select	NP_004997.4:p.Tyr596His
NM_001199984.2:c.1828T>C	NP_001186913.1:p.Tyr610His