Canonical Allele Identifier: CA430952612
Gene: NDUFS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.207009645G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206144921G>T , CM000664.2:g.206144921G>T GRCh38
NC_000002.11:g.207009645G>T , CM000664.1:g.207009645G>T GRCh37
NC_000002.10:g.206717890G>T NCBI36
NG_009248.1:g.19543C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.843C>A MANE Select ENSP00000233190.5:p.Ile281=
ENST00000233190.10:c.843C>A ENSP00000233190.5:p.Ile281=
ENST00000423725.5:c.672C>A ENSP00000397760.1:p.Ile224=
ENST00000432169.5:c.510C>A ENSP00000409689.1:p.Ile170=
ENST00000440274.5:c.735C>A ENSP00000409766.1:p.Ile245=
ENST00000449699.5:c.843C>A ENSP00000399912.1:p.Ile281=
ENST00000455934.6:c.885C>A ENSP00000392709.2:p.Ile295=
ENST00000457011.5:c.495C>A ENSP00000400976.1:p.Ile165=
NM_001199981.1:c.735C>A NP_001186910.1:p.Ile245=
NM_001199982.1:c.510C>A NP_001186911.1:p.Ile170=
NM_001199983.1:c.672C>A NP_001186912.1:p.Ile224=
NM_001199984.1:c.885C>A NP_001186913.1:p.Ile295=
NM_005006.6:c.843C>A NP_004997.4:p.Ile281=
XM_017004188.2:c.84C>A XP_016859677.1:p.Ile28=
NM_001199981.2:c.735C>A NP_001186910.1:p.Ile245=
NM_001199982.2:c.510C>A NP_001186911.1:p.Ile170=
NM_001199983.2:c.672C>A NP_001186912.1:p.Ile224=
NM_005006.7:c.843C>A MANE Select NP_004997.4:p.Ile281=
NM_001199984.2:c.885C>A NP_001186913.1:p.Ile295=