Canonical Allele Identifier: CA658796148

Gene: NDUFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206130069T>C , CM000664.2:g.206130069T>C	GRCh38
NC_000002.11:g.206994793T>C , CM000664.1:g.206994793T>C	GRCh37
NC_000002.10:g.206703038T>C	NCBI36
NG_009248.1:g.34395A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005006.7:c.1708+19A>G MANE Select	NP_004997.4:n.1708+19A>G
ENST00000233190.11:c.1708+19A>G MANE Select	ENSP00000233190.5:n.1708+19A>G
NM_001199981.1:c.1600+19A>G	NP_001186910.1:n.1600+19A>G
NM_001199981.2:c.1600+19A>G	NP_001186910.1:n.1600+19A>G
NM_001199982.1:c.1375+19A>G	NP_001186911.1:n.1375+19A>G
NM_001199982.2:c.1375+19A>G	NP_001186911.1:n.1375+19A>G
NM_001199983.1:c.1537+19A>G	NP_001186912.1:n.1537+19A>G
NM_001199983.2:c.1537+19A>G	NP_001186912.1:n.1537+19A>G
NM_001199984.1:c.1750+19A>G	NP_001186913.1:n.1750+19A>G
NM_001199984.2:c.1750+19A>G	NP_001186913.1:n.1750+19A>G
NM_005006.6:c.1708+19A>G	NP_004997.4:n.1708+19A>G
ENST00000233190.10:c.1708+19A>G	ENSP00000233190.5:n.1708+19A>G
ENST00000423725.5:c.1537+19A>G	ENSP00000397760.1:n.1537+19A>G
ENST00000432169.5:c.1375+19A>G	ENSP00000409689.1:n.1375+19A>G
ENST00000440274.5:c.1600+19A>G	ENSP00000409766.1:n.1600+19A>G
ENST00000449699.5:c.1708+19A>G	ENSP00000399912.1:n.1708+19A>G
ENST00000455934.6:c.1750+19A>G	ENSP00000392709.2:n.1750+19A>G
ENST00000457011.5:c.1360+19A>G	ENSP00000400976.1:n.1360+19A>G
ENST00000498520.1:n.180+19A>G
XM_017004188.2:c.949+19A>G	XP_016859677.1:n.949+19A>G