Canonical Allele Identifier: CA430943507

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.206992671G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127947G>T , CM000664.2:g.206127947G>T	GRCh38
NC_000002.11:g.206992671G>T , CM000664.1:g.206992671G>T	GRCh37
NC_000002.10:g.206700916G>T	NCBI36
NG_009248.1:g.36517C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1734C>A MANE Select	ENSP00000233190.5:p.Pro578=
ENST00000233190.10:c.1734C>A	ENSP00000233190.5:p.Pro578=
ENST00000423725.5:c.1563C>A	ENSP00000397760.1:p.Pro521=
ENST00000432169.5:c.1401C>A	ENSP00000409689.1:p.Pro467=
ENST00000440274.5:c.1626C>A	ENSP00000409766.1:p.Pro542=
ENST00000449699.5:c.1734C>A	ENSP00000399912.1:p.Pro578=
ENST00000455934.6:c.1776C>A	ENSP00000392709.2:p.Pro592=
ENST00000457011.5:c.1386C>A	ENSP00000400976.1:p.Pro462=
ENST00000498520.1:n.206C>A
NM_001199981.1:c.1626C>A	NP_001186910.1:p.Pro542=
NM_001199982.1:c.1401C>A	NP_001186911.1:p.Pro467=
NM_001199983.1:c.1563C>A	NP_001186912.1:p.Pro521=
NM_001199984.1:c.1776C>A	NP_001186913.1:p.Pro592=
NM_005006.6:c.1734C>A	NP_004997.4:p.Pro578=
XM_017004188.2:c.975C>A	XP_016859677.1:p.Pro325=
NM_001199981.2:c.1626C>A	NP_001186910.1:p.Pro542=
NM_001199982.2:c.1401C>A	NP_001186911.1:p.Pro467=
NM_001199983.2:c.1563C>A	NP_001186912.1:p.Pro521=
NM_005006.7:c.1734C>A MANE Select	NP_004997.4:p.Pro578=
NM_001199984.2:c.1776C>A	NP_001186913.1:p.Pro592=