Canonical Allele Identifier: CA350057356

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.207009679A>G (hg19) ; chr2:g.206144955A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144955A>G , CM000664.2:g.206144955A>G	GRCh38
NC_000002.11:g.207009679A>G , CM000664.1:g.207009679A>G	GRCh37
NC_000002.10:g.206717924A>G	NCBI36
NG_009248.1:g.19509T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.809T>C MANE Select	ENSP00000233190.5:p.Val270Ala
ENST00000233190.10:c.809T>C	ENSP00000233190.5:p.Val270Ala
ENST00000423725.5:c.638T>C	ENSP00000397760.1:p.Val213Ala
ENST00000432169.5:c.476T>C	ENSP00000409689.1:p.Val159Ala
ENST00000440274.5:c.701T>C	ENSP00000409766.1:p.Val234Ala
ENST00000449699.5:c.809T>C	ENSP00000399912.1:p.Val270Ala
ENST00000455934.6:c.851T>C	ENSP00000392709.2:p.Val284Ala
ENST00000457011.5:c.461T>C	ENSP00000400976.1:p.Val154Ala
NM_001199981.1:c.701T>C	NP_001186910.1:p.Val234Ala
NM_001199982.1:c.476T>C	NP_001186911.1:p.Val159Ala
NM_001199983.1:c.638T>C	NP_001186912.1:p.Val213Ala
NM_001199984.1:c.851T>C	NP_001186913.1:p.Val284Ala
NM_005006.6:c.809T>C	NP_004997.4:p.Val270Ala
XM_017004188.2:c.50T>C	XP_016859677.1:p.Val17Ala
NM_001199981.2:c.701T>C	NP_001186910.1:p.Val234Ala
NM_001199982.2:c.476T>C	NP_001186911.1:p.Val159Ala
NM_001199983.2:c.638T>C	NP_001186912.1:p.Val213Ala
NM_005006.7:c.809T>C MANE Select	NP_004997.4:p.Val270Ala
NM_001199984.2:c.851T>C	NP_001186913.1:p.Val284Ala