Canonical Allele Identifier: CA430953122

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.207009696G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144972G>A , CM000664.2:g.206144972G>A	GRCh38
NC_000002.11:g.207009696G>A , CM000664.1:g.207009696G>A	GRCh37
NC_000002.10:g.206717941G>A	NCBI36
NG_009248.1:g.19492C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.792C>T MANE Select	ENSP00000233190.5:p.Ser264=
ENST00000233190.10:c.792C>T	ENSP00000233190.5:p.Ser264=
ENST00000423725.5:c.621C>T	ENSP00000397760.1:p.Ser207=
ENST00000432169.5:c.459C>T	ENSP00000409689.1:p.Ser153=
ENST00000440274.5:c.684C>T	ENSP00000409766.1:p.Ser228=
ENST00000449699.5:c.792C>T	ENSP00000399912.1:p.Ser264=
ENST00000455934.6:c.834C>T	ENSP00000392709.2:p.Ser278=
ENST00000457011.5:c.444C>T	ENSP00000400976.1:p.Ser148=
NM_001199981.1:c.684C>T	NP_001186910.1:p.Ser228=
NM_001199982.1:c.459C>T	NP_001186911.1:p.Ser153=
NM_001199983.1:c.621C>T	NP_001186912.1:p.Ser207=
NM_001199984.1:c.834C>T	NP_001186913.1:p.Ser278=
NM_005006.6:c.792C>T	NP_004997.4:p.Ser264=
XM_017004188.2:c.33C>T	XP_016859677.1:p.Ser11=
NM_001199981.2:c.684C>T	NP_001186910.1:p.Ser228=
NM_001199982.2:c.459C>T	NP_001186911.1:p.Ser153=
NM_001199983.2:c.621C>T	NP_001186912.1:p.Ser207=
NM_005006.7:c.792C>T MANE Select	NP_004997.4:p.Ser264=
NM_001199984.2:c.834C>T	NP_001186913.1:p.Ser278=