Canonical Allele Identifier: CA18659661

Gene: SDHB

Linked Data

• dbSNP Id: rs191249882
• gnomAD v3: 1-17018752-T-C
• gnomAD v4: 1-17018752-T-C
• MyVariant Identifiers: chr1:g.17345247T>C (hg19) ; chr1:g.17018752T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17018752T>C , CM000663.2:g.17018752T>C	GRCh38
NC_000001.10:g.17345247T>C , CM000663.1:g.17345247T>C	GRCh37
NC_000001.9:g.17217834T>C	NCBI36
NG_012340.1:g.40419A>G , LRG_316:g.40419A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.*129A>G	ENSP00000481376.2:n.*129A>G
ENST00000491274.6:c.*129A>G	ENSP00000480482.2:n.*129A>G
ENST00000375499.8:c.*129A>G MANE Select	ENSP00000364649.3:n.*129A>G
ENST00000375499.7:c.*129A>G	ENSP00000364649.3:n.*129A>G
ENST00000475049.5:n.397A>G
ENST00000485092.5:n.636A>G
NM_003000.2:c.*129A>G , LRG_316t1:c.*129A>G	NP_002991.2:n.*129A>G
NM_003000.3:c.*129A>G MANE Select	NP_002991.2:n.*129A>G