Canonical Allele Identifier: CA63648774

Gene: NDUFS1

Linked Data

• dbSNP Id: rs543614624
• gnomAD v3: 2-206127972-C-G
• gnomAD v4: 2-206127972-C-G
• MyVariant Identifiers: chr2:g.206992696C>G (hg19) ; chr2:g.206127972C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127972C>G , CM000664.2:g.206127972C>G	GRCh38
NC_000002.11:g.206992696C>G , CM000664.1:g.206992696C>G	GRCh37
NC_000002.10:g.206700941C>G	NCBI36
NG_009248.1:g.36492G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1709G>C MANE Select	ENSP00000233190.5:p.Gly570Ala
ENST00000233190.10:c.1709G>C	ENSP00000233190.5:p.Gly570Ala
ENST00000423725.5:c.1538G>C	ENSP00000397760.1:p.Gly513Ala
ENST00000432169.5:c.1376G>C	ENSP00000409689.1:p.Gly459Ala
ENST00000440274.5:c.1601G>C	ENSP00000409766.1:p.Gly534Ala
ENST00000449699.5:c.1709G>C	ENSP00000399912.1:p.Gly570Ala
ENST00000455934.6:c.1751G>C	ENSP00000392709.2:p.Gly584Ala
ENST00000457011.5:c.1361G>C	ENSP00000400976.1:p.Gly454Ala
ENST00000498520.1:n.181G>C
NM_001199981.1:c.1601G>C	NP_001186910.1:p.Gly534Ala
NM_001199982.1:c.1376G>C	NP_001186911.1:p.Gly459Ala
NM_001199983.1:c.1538G>C	NP_001186912.1:p.Gly513Ala
NM_001199984.1:c.1751G>C	NP_001186913.1:p.Gly584Ala
NM_005006.6:c.1709G>C	NP_004997.4:p.Gly570Ala
XM_017004188.2:c.950G>C	XP_016859677.1:p.Gly317Ala
NM_001199981.2:c.1601G>C	NP_001186910.1:p.Gly534Ala
NM_001199982.2:c.1376G>C	NP_001186911.1:p.Gly459Ala
NM_001199983.2:c.1538G>C	NP_001186912.1:p.Gly513Ala
NM_005006.7:c.1709G>C MANE Select	NP_004997.4:p.Gly570Ala
NM_001199984.2:c.1751G>C	NP_001186913.1:p.Gly584Ala