Canonical Allele Identifier: CA430952800
Gene: NDUFS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.207009663T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206144939T>A , CM000664.2:g.206144939T>A GRCh38
NC_000002.11:g.207009663T>A , CM000664.1:g.207009663T>A GRCh37
NC_000002.10:g.206717908T>A NCBI36
NG_009248.1:g.19525A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.825A>T MANE Select ENSP00000233190.5:p.Pro275=
ENST00000233190.10:c.825A>T ENSP00000233190.5:p.Pro275=
ENST00000423725.5:c.654A>T ENSP00000397760.1:p.Pro218=
ENST00000432169.5:c.492A>T ENSP00000409689.1:p.Pro164=
ENST00000440274.5:c.717A>T ENSP00000409766.1:p.Pro239=
ENST00000449699.5:c.825A>T ENSP00000399912.1:p.Pro275=
ENST00000455934.6:c.867A>T ENSP00000392709.2:p.Pro289=
ENST00000457011.5:c.477A>T ENSP00000400976.1:p.Pro159=
NM_001199981.1:c.717A>T NP_001186910.1:p.Pro239=
NM_001199982.1:c.492A>T NP_001186911.1:p.Pro164=
NM_001199983.1:c.654A>T NP_001186912.1:p.Pro218=
NM_001199984.1:c.867A>T NP_001186913.1:p.Pro289=
NM_005006.6:c.825A>T NP_004997.4:p.Pro275=
XM_017004188.2:c.66A>T XP_016859677.1:p.Pro22=
NM_001199981.2:c.717A>T NP_001186910.1:p.Pro239=
NM_001199982.2:c.492A>T NP_001186911.1:p.Pro164=
NM_001199983.2:c.654A>T NP_001186912.1:p.Pro218=
NM_005006.7:c.825A>T MANE Select NP_004997.4:p.Pro275=
NM_001199984.2:c.867A>T NP_001186913.1:p.Pro289=