Canonical Allele Identifier: CA350056272

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.207009621T>A (hg19) ; chr2:g.206144897T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144897T>A , CM000664.2:g.206144897T>A	GRCh38
NC_000002.11:g.207009621T>A , CM000664.1:g.207009621T>A	GRCh37
NC_000002.10:g.206717866T>A	NCBI36
NG_009248.1:g.19567A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.867A>T MANE Select	ENSP00000233190.5:p.Lys289Asn
ENST00000233190.10:c.867A>T	ENSP00000233190.5:p.Lys289Asn
ENST00000423725.5:c.696A>T	ENSP00000397760.1:p.Lys232Asn
ENST00000432169.5:c.534A>T	ENSP00000409689.1:p.Lys178Asn
ENST00000440274.5:c.759A>T	ENSP00000409766.1:p.Lys253Asn
ENST00000449699.5:c.867A>T	ENSP00000399912.1:p.Lys289Asn
ENST00000455934.6:c.909A>T	ENSP00000392709.2:p.Lys303Asn
ENST00000457011.5:c.519A>T	ENSP00000400976.1:p.Lys173Asn
NM_001199981.1:c.759A>T	NP_001186910.1:p.Lys253Asn
NM_001199982.1:c.534A>T	NP_001186911.1:p.Lys178Asn
NM_001199983.1:c.696A>T	NP_001186912.1:p.Lys232Asn
NM_001199984.1:c.909A>T	NP_001186913.1:p.Lys303Asn
NM_005006.6:c.867A>T	NP_004997.4:p.Lys289Asn
XM_017004188.2:c.108A>T	XP_016859677.1:p.Lys36Asn
NM_001199981.2:c.759A>T	NP_001186910.1:p.Lys253Asn
NM_001199982.2:c.534A>T	NP_001186911.1:p.Lys178Asn
NM_001199983.2:c.696A>T	NP_001186912.1:p.Lys232Asn
NM_005006.7:c.867A>T MANE Select	NP_004997.4:p.Lys289Asn
NM_001199984.2:c.909A>T	NP_001186913.1:p.Lys303Asn