Canonical Allele Identifier: CA350043307

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.206992603C>G (hg19) ; chr2:g.206127879C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127879C>G , CM000664.2:g.206127879C>G	GRCh38
NC_000002.11:g.206992603C>G , CM000664.1:g.206992603C>G	GRCh37
NC_000002.10:g.206700848C>G	NCBI36
NG_009248.1:g.36585G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1802G>C MANE Select	ENSP00000233190.5:p.Gly601Ala
ENST00000233190.10:c.1802G>C	ENSP00000233190.5:p.Gly601Ala
ENST00000423725.5:c.1631G>C	ENSP00000397760.1:p.Gly544Ala
ENST00000432169.5:c.1469G>C	ENSP00000409689.1:p.Gly490Ala
ENST00000440274.5:c.1694G>C	ENSP00000409766.1:p.Gly565Ala
ENST00000449699.5:c.1802G>C	ENSP00000399912.1:p.Gly601Ala
ENST00000455934.6:c.1844G>C	ENSP00000392709.2:p.Gly615Ala
ENST00000457011.5:c.1454G>C	ENSP00000400976.1:p.Gly485Ala
ENST00000498520.1:n.274G>C
NM_001199981.1:c.1694G>C	NP_001186910.1:p.Gly565Ala
NM_001199982.1:c.1469G>C	NP_001186911.1:p.Gly490Ala
NM_001199983.1:c.1631G>C	NP_001186912.1:p.Gly544Ala
NM_001199984.1:c.1844G>C	NP_001186913.1:p.Gly615Ala
NM_005006.6:c.1802G>C	NP_004997.4:p.Gly601Ala
XM_017004188.2:c.1043G>C	XP_016859677.1:p.Gly348Ala
NM_001199981.2:c.1694G>C	NP_001186910.1:p.Gly565Ala
NM_001199982.2:c.1469G>C	NP_001186911.1:p.Gly490Ala
NM_001199983.2:c.1631G>C	NP_001186912.1:p.Gly544Ala
NM_005006.7:c.1802G>C MANE Select	NP_004997.4:p.Gly601Ala
NM_001199984.2:c.1844G>C	NP_001186913.1:p.Gly615Ala