Canonical Allele Identifier: CA430952958

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.207009678C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144954C>G , CM000664.2:g.206144954C>G	GRCh38
NC_000002.11:g.207009678C>G , CM000664.1:g.207009678C>G	GRCh37
NC_000002.10:g.206717923C>G	NCBI36
NG_009248.1:g.19510G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.810G>C MANE Select	ENSP00000233190.5:p.Val270=
ENST00000233190.10:c.810G>C	ENSP00000233190.5:p.Val270=
ENST00000423725.5:c.639G>C	ENSP00000397760.1:p.Val213=
ENST00000432169.5:c.477G>C	ENSP00000409689.1:p.Val159=
ENST00000440274.5:c.702G>C	ENSP00000409766.1:p.Val234=
ENST00000449699.5:c.810G>C	ENSP00000399912.1:p.Val270=
ENST00000455934.6:c.852G>C	ENSP00000392709.2:p.Val284=
ENST00000457011.5:c.462G>C	ENSP00000400976.1:p.Val154=
NM_001199981.1:c.702G>C	NP_001186910.1:p.Val234=
NM_001199982.1:c.477G>C	NP_001186911.1:p.Val159=
NM_001199983.1:c.639G>C	NP_001186912.1:p.Val213=
NM_001199984.1:c.852G>C	NP_001186913.1:p.Val284=
NM_005006.6:c.810G>C	NP_004997.4:p.Val270=
XM_017004188.2:c.51G>C	XP_016859677.1:p.Val17=
NM_001199981.2:c.702G>C	NP_001186910.1:p.Val234=
NM_001199982.2:c.477G>C	NP_001186911.1:p.Val159=
NM_001199983.2:c.639G>C	NP_001186912.1:p.Val213=
NM_005006.7:c.810G>C MANE Select	NP_004997.4:p.Val270=
NM_001199984.2:c.852G>C	NP_001186913.1:p.Val284=