Canonical Allele Identifier: CA338274976

Gene: SDHB

Linked Data

• dbSNP Id: rs2078005212
• gnomAD v3: 1-17028709-A-C
• gnomAD v4: 1-17028709-A-C
• MyVariant Identifiers: chr1:g.17355204A>C (hg19) ; chr1:g.17028709A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028709A>C , CM000663.2:g.17028709A>C	GRCh38
NC_000001.10:g.17355204A>C , CM000663.1:g.17355204A>C	GRCh37
NC_000001.9:g.17227791A>C	NCBI36
NG_012340.1:g.30462T>G , LRG_316:g.30462T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.143T>G	ENSP00000481376.2:p.Ile48Ser
ENST00000491274.6:c.272T>G	ENSP00000480482.2:p.Ile91Ser
ENST00000375499.8:c.314T>G MANE Select	ENSP00000364649.3:p.Ile105Ser
ENST00000375499.7:c.314T>G	ENSP00000364649.3:p.Ile105Ser
ENST00000463045.2:c.143T>G	ENSP00000481376.1:p.Ile48Ser
ENST00000475506.1:n.231T>G
ENST00000485515.5:n.302T>G
ENST00000491274.5:c.272T>G	ENSP00000480482.1:p.Ile91Ser
NM_003000.2:c.314T>G , LRG_316t1:c.314T>G	NP_002991.2:p.Ile105Ser
NM_003000.3:c.314T>G MANE Select	NP_002991.2:p.Ile105Ser