Canonical Allele Identifier: CA350053143

Gene: NDUFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206142721T>A , CM000664.2:g.206142721T>A	GRCh38
NC_000002.11:g.207007445T>A , CM000664.1:g.207007445T>A	GRCh37
NC_000002.10:g.206715690T>A	NCBI36
NG_009248.1:g.21743A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005006.7:c.1098A>T MANE Select	NP_004997.4:p.Leu366Phe
ENST00000233190.11:c.1098A>T MANE Select	ENSP00000233190.5:p.Leu366Phe
NM_001199981.1:c.990A>T	NP_001186910.1:p.Leu330Phe
NM_001199981.2:c.990A>T	NP_001186910.1:p.Leu330Phe
NM_001199982.1:c.765A>T	NP_001186911.1:p.Leu255Phe
NM_001199982.2:c.765A>T	NP_001186911.1:p.Leu255Phe
NM_001199983.1:c.927A>T	NP_001186912.1:p.Leu309Phe
NM_001199983.2:c.927A>T	NP_001186912.1:p.Leu309Phe
NM_001199984.1:c.1140A>T	NP_001186913.1:p.Leu380Phe
NM_001199984.2:c.1140A>T	NP_001186913.1:p.Leu380Phe
NM_005006.6:c.1098A>T	NP_004997.4:p.Leu366Phe
ENST00000233190.10:c.1098A>T	ENSP00000233190.5:p.Leu366Phe
ENST00000423725.5:c.927A>T	ENSP00000397760.1:p.Leu309Phe
ENST00000432169.5:c.765A>T	ENSP00000409689.1:p.Leu255Phe
ENST00000440274.5:c.990A>T	ENSP00000409766.1:p.Leu330Phe
ENST00000449699.5:c.1098A>T	ENSP00000399912.1:p.Leu366Phe
ENST00000455934.6:c.1140A>T	ENSP00000392709.2:p.Leu380Phe
ENST00000457011.5:c.750A>T	ENSP00000400976.1:p.Leu250Phe
XM_017004188.2:c.339A>T	XP_016859677.1:p.Leu113Phe