Canonical Allele Identifier: CA350057213

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.207009661C>A (hg19) ; chr2:g.206144937C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144937C>A , CM000664.2:g.206144937C>A	GRCh38
NC_000002.11:g.207009661C>A , CM000664.1:g.207009661C>A	GRCh37
NC_000002.10:g.206717906C>A	NCBI36
NG_009248.1:g.19527G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.827G>T MANE Select	ENSP00000233190.5:p.Arg276Leu
ENST00000233190.10:c.827G>T	ENSP00000233190.5:p.Arg276Leu
ENST00000423725.5:c.656G>T	ENSP00000397760.1:p.Arg219Leu
ENST00000432169.5:c.494G>T	ENSP00000409689.1:p.Arg165Leu
ENST00000440274.5:c.719G>T	ENSP00000409766.1:p.Arg240Leu
ENST00000449699.5:c.827G>T	ENSP00000399912.1:p.Arg276Leu
ENST00000455934.6:c.869G>T	ENSP00000392709.2:p.Arg290Leu
ENST00000457011.5:c.479G>T	ENSP00000400976.1:p.Arg160Leu
NM_001199981.1:c.719G>T	NP_001186910.1:p.Arg240Leu
NM_001199982.1:c.494G>T	NP_001186911.1:p.Arg165Leu
NM_001199983.1:c.656G>T	NP_001186912.1:p.Arg219Leu
NM_001199984.1:c.869G>T	NP_001186913.1:p.Arg290Leu
NM_005006.6:c.827G>T	NP_004997.4:p.Arg276Leu
XM_017004188.2:c.68G>T	XP_016859677.1:p.Arg23Leu
NM_001199981.2:c.719G>T	NP_001186910.1:p.Arg240Leu
NM_001199982.2:c.494G>T	NP_001186911.1:p.Arg165Leu
NM_001199983.2:c.656G>T	NP_001186912.1:p.Arg219Leu
NM_005006.7:c.827G>T MANE Select	NP_004997.4:p.Arg276Leu
NM_001199984.2:c.869G>T	NP_001186913.1:p.Arg290Leu