Canonical Allele Identifier: CA350057723
Gene: NDUFS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206145012A>T , CM000664.2:g.206145012A>T GRCh38
NC_000002.11:g.207009736A>T , CM000664.1:g.207009736A>T GRCh37
NC_000002.10:g.206717981A>T NCBI36
NG_009248.1:g.19452T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000233190.11:c.752T>A MANE Select ENSP00000233190.5:p.Ile251Asn
ENST00000233190.10:c.752T>A ENSP00000233190.5:p.Ile251Asn
ENST00000423725.5:c.581T>A ENSP00000397760.1:p.Ile194Asn
ENST00000432169.5:c.419T>A ENSP00000409689.1:p.Ile140Asn
ENST00000440274.5:c.644T>A ENSP00000409766.1:p.Ile215Asn
ENST00000449699.5:c.752T>A ENSP00000399912.1:p.Ile251Asn
ENST00000455934.6:c.794T>A ENSP00000392709.2:p.Ile265Asn
ENST00000457011.5:c.404T>A ENSP00000400976.1:p.Ile135Asn
NM_001199981.1:c.644T>A NP_001186910.1:p.Ile215Asn
NM_001199982.1:c.419T>A NP_001186911.1:p.Ile140Asn
NM_001199983.1:c.581T>A NP_001186912.1:p.Ile194Asn
NM_001199984.1:c.794T>A NP_001186913.1:p.Ile265Asn
NM_005006.6:c.752T>A NP_004997.4:p.Ile251Asn
XM_017004188.2:c.-8T>A XP_016859677.1:n.-8T>A
NM_001199981.2:c.644T>A NP_001186910.1:p.Ile215Asn
NM_001199982.2:c.419T>A NP_001186911.1:p.Ile140Asn
NM_001199983.2:c.581T>A NP_001186912.1:p.Ile194Asn
NM_005006.7:c.752T>A MANE Select NP_004997.4:p.Ile251Asn
NM_001199984.2:c.794T>A NP_001186913.1:p.Ile265Asn