Canonical Allele Identifier: CA763786667

Gene: NDUFS1

Linked Data

• dbSNP Id: rs1219863295
• MyVariant Identifiers: chr2:g.206986760C>A (hg19) ; chr2:g.206122036C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206122036C>A , CM000664.2:g.206122036C>A	GRCh38
NC_000002.11:g.206986760C>A , CM000664.1:g.206986760C>A	GRCh37
NC_000002.10:g.206695005C>A	NCBI36
NG_009248.1:g.42428G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.*2149G>T MANE Select	ENSP00000233190.5:n.*2149G>T
ENST00000233190.10:c.*2149G>T	ENSP00000233190.5:n.*2149G>T
NM_001199981.2:c.*2149G>T	NP_001186910.1:n.*2149G>T
NM_001199982.2:c.*2149G>T	NP_001186911.1:n.*2149G>T
NM_001199983.2:c.*2149G>T	NP_001186912.1:n.*2149G>T
NM_005006.7:c.*2149G>T MANE Select	NP_004997.4:n.*2149G>T
NM_001199984.2:c.*2149G>T	NP_001186913.1:n.*2149G>T