Canonical Allele Identifier: CA63664953

Gene: NDUFS1

Linked Data

• dbSNP Id: rs1022252052
• gnomAD v3: 2-206144817-G-A
• gnomAD v4: 2-206144817-G-A
• MyVariant Identifiers: chr2:g.207009541G>A (hg19) ; chr2:g.206144817G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144817G>A , CM000664.2:g.206144817G>A	GRCh38
NC_000002.11:g.207009541G>A , CM000664.1:g.207009541G>A	GRCh37
NC_000002.10:g.206717786G>A	NCBI36
NG_009248.1:g.19647C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.872+75C>T MANE Select	ENSP00000233190.5:n.872+75C>T
ENST00000233190.10:c.872+75C>T	ENSP00000233190.5:n.872+75C>T
ENST00000423725.5:c.701+75C>T	ENSP00000397760.1:n.701+75C>T
ENST00000432169.5:c.539+75C>T	ENSP00000409689.1:n.539+75C>T
ENST00000440274.5:c.764+75C>T	ENSP00000409766.1:n.764+75C>T
ENST00000449699.5:c.872+75C>T	ENSP00000399912.1:n.872+75C>T
ENST00000455934.6:c.914+75C>T	ENSP00000392709.2:n.914+75C>T
ENST00000457011.5:c.524+75C>T	ENSP00000400976.1:n.524+75C>T
NM_001199981.1:c.764+75C>T	NP_001186910.1:n.764+75C>T
NM_001199982.1:c.539+75C>T	NP_001186911.1:n.539+75C>T
NM_001199983.1:c.701+75C>T	NP_001186912.1:n.701+75C>T
NM_001199984.1:c.914+75C>T	NP_001186913.1:n.914+75C>T
NM_005006.6:c.872+75C>T	NP_004997.4:n.872+75C>T
XM_017004188.2:c.113+75C>T	XP_016859677.1:n.113+75C>T
NM_001199981.2:c.764+75C>T	NP_001186910.1:n.764+75C>T
NM_001199982.2:c.539+75C>T	NP_001186911.1:n.539+75C>T
NM_001199983.2:c.701+75C>T	NP_001186912.1:n.701+75C>T
NM_005006.7:c.872+75C>T MANE Select	NP_004997.4:n.872+75C>T
NM_001199984.2:c.914+75C>T	NP_001186913.1:n.914+75C>T