Canonical Allele Identifier: CA2070563

Gene: NDUFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206142699T>C , CM000664.2:g.206142699T>C	GRCh38
NC_000002.11:g.207007423T>C , CM000664.1:g.207007423T>C	GRCh37
NC_000002.10:g.206715668T>C	NCBI36
NG_009248.1:g.21765A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005006.7:c.1120A>G MANE Select	NP_004997.4:p.Thr374Ala
ENST00000233190.11:c.1120A>G MANE Select	ENSP00000233190.5:p.Thr374Ala
NM_001199981.1:c.1012A>G	NP_001186910.1:p.Thr338Ala
NM_001199981.2:c.1012A>G	NP_001186910.1:p.Thr338Ala
NM_001199982.1:c.787A>G	NP_001186911.1:p.Thr263Ala
NM_001199982.2:c.787A>G	NP_001186911.1:p.Thr263Ala
NM_001199983.1:c.949A>G	NP_001186912.1:p.Thr317Ala
NM_001199983.2:c.949A>G	NP_001186912.1:p.Thr317Ala
NM_001199984.1:c.1162A>G	NP_001186913.1:p.Thr388Ala
NM_001199984.2:c.1162A>G	NP_001186913.1:p.Thr388Ala
NM_005006.6:c.1120A>G	NP_004997.4:p.Thr374Ala
ENST00000233190.10:c.1120A>G	ENSP00000233190.5:p.Thr374Ala
ENST00000423725.5:c.949A>G	ENSP00000397760.1:p.Thr317Ala
ENST00000432169.5:c.787A>G	ENSP00000409689.1:p.Thr263Ala
ENST00000440274.5:c.1012A>G	ENSP00000409766.1:p.Thr338Ala
ENST00000449699.5:c.1120A>G	ENSP00000399912.1:p.Thr374Ala
ENST00000455934.6:c.1162A>G	ENSP00000392709.2:p.Thr388Ala
ENST00000457011.5:c.772A>G	ENSP00000400976.1:p.Thr258Ala
XM_017004188.2:c.361A>G	XP_016859677.1:p.Thr121Ala