Canonical Allele Identifier: CA763755801

Gene: NDUFS1

Linked Data

• dbSNP Id: rs1470028833
• gnomAD v4: 2-206144818-A-G
• MyVariant Identifiers: chr2:g.207009542A>G (hg19) ; chr2:g.206144818A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144818A>G , CM000664.2:g.206144818A>G	GRCh38
NC_000002.11:g.207009542A>G , CM000664.1:g.207009542A>G	GRCh37
NC_000002.10:g.206717787A>G	NCBI36
NG_009248.1:g.19646T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.872+74T>C MANE Select	ENSP00000233190.5:n.872+74T>C
ENST00000233190.10:c.872+74T>C	ENSP00000233190.5:n.872+74T>C
ENST00000423725.5:c.701+74T>C	ENSP00000397760.1:n.701+74T>C
ENST00000432169.5:c.539+74T>C	ENSP00000409689.1:n.539+74T>C
ENST00000440274.5:c.764+74T>C	ENSP00000409766.1:n.764+74T>C
ENST00000449699.5:c.872+74T>C	ENSP00000399912.1:n.872+74T>C
ENST00000455934.6:c.914+74T>C	ENSP00000392709.2:n.914+74T>C
ENST00000457011.5:c.524+74T>C	ENSP00000400976.1:n.524+74T>C
NM_001199981.1:c.764+74T>C	NP_001186910.1:n.764+74T>C
NM_001199982.1:c.539+74T>C	NP_001186911.1:n.539+74T>C
NM_001199983.1:c.701+74T>C	NP_001186912.1:n.701+74T>C
NM_001199984.1:c.914+74T>C	NP_001186913.1:n.914+74T>C
NM_005006.6:c.872+74T>C	NP_004997.4:n.872+74T>C
XM_017004188.2:c.113+74T>C	XP_016859677.1:n.113+74T>C
NM_001199981.2:c.764+74T>C	NP_001186910.1:n.764+74T>C
NM_001199982.2:c.539+74T>C	NP_001186911.1:n.539+74T>C
NM_001199983.2:c.701+74T>C	NP_001186912.1:n.701+74T>C
NM_005006.7:c.872+74T>C MANE Select	NP_004997.4:n.872+74T>C
NM_001199984.2:c.914+74T>C	NP_001186913.1:n.914+74T>C