Canonical Allele Identifier: CA2070355

Gene: NDUFS1

Linked Data

• dbSNP Id: rs772054313
• ExAC: 2:206992653 G / A
• gnomAD v2: 2-206992653-G-A
• gnomAD v4: 2-206127929-G-A
• MyVariant Identifiers: chr2:g.206992653G>A (hg19) ; chr2:g.206127929G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127929G>A , CM000664.2:g.206127929G>A	GRCh38
NC_000002.11:g.206992653G>A , CM000664.1:g.206992653G>A	GRCh37
NC_000002.10:g.206700898G>A	NCBI36
NG_009248.1:g.36535C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1752C>T MANE Select	ENSP00000233190.5:p.Leu584=
ENST00000233190.10:c.1752C>T	ENSP00000233190.5:p.Leu584=
ENST00000423725.5:c.1581C>T	ENSP00000397760.1:p.Leu527=
ENST00000432169.5:c.1419C>T	ENSP00000409689.1:p.Leu473=
ENST00000440274.5:c.1644C>T	ENSP00000409766.1:p.Leu548=
ENST00000449699.5:c.1752C>T	ENSP00000399912.1:p.Leu584=
ENST00000455934.6:c.1794C>T	ENSP00000392709.2:p.Leu598=
ENST00000457011.5:c.1404C>T	ENSP00000400976.1:p.Leu468=
ENST00000498520.1:n.224C>T
NM_001199981.1:c.1644C>T	NP_001186910.1:p.Leu548=
NM_001199982.1:c.1419C>T	NP_001186911.1:p.Leu473=
NM_001199983.1:c.1581C>T	NP_001186912.1:p.Leu527=
NM_001199984.1:c.1794C>T	NP_001186913.1:p.Leu598=
NM_005006.6:c.1752C>T	NP_004997.4:p.Leu584=
XM_017004188.2:c.993C>T	XP_016859677.1:p.Leu331=
NM_001199981.2:c.1644C>T	NP_001186910.1:p.Leu548=
NM_001199982.2:c.1419C>T	NP_001186911.1:p.Leu473=
NM_001199983.2:c.1581C>T	NP_001186912.1:p.Leu527=
NM_005006.7:c.1752C>T MANE Select	NP_004997.4:p.Leu584=
NM_001199984.2:c.1794C>T	NP_001186913.1:p.Leu598=