Canonical Allele Identifier: CA089669

Gene: SDHB

Linked Data

• ClinVar Variation Id: 459156
• ClinVar RCV Id: RCV000559101 ; RCV000561124 ; RCV001672828 ; RCV002268142
• dbSNP Id: rs202098600
• ExAC: 1:17350558 G / A
• gnomAD v2: 1-17350558-G-A
• gnomAD v3: 1-17024063-G-A
• gnomAD v4: 1-17024063-G-A
• MyVariant Identifiers: chr1:g.17350558G>A (hg19) ; chr1:g.17024063G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17024063G>A , CM000663.2:g.17024063G>A	GRCh38
NC_000001.10:g.17350558G>A , CM000663.1:g.17350558G>A	GRCh37
NC_000001.9:g.17223145G>A	NCBI36
NG_012340.1:g.35108C>T , LRG_316:g.35108C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.381C>T	ENSP00000481376.2:p.Tyr127=
ENST00000491274.6:c.510C>T	ENSP00000480482.2:p.Tyr170=
ENST00000375499.8:c.552C>T MANE Select	ENSP00000364649.3:p.Tyr184=
ENST00000375499.7:c.552C>T	ENSP00000364649.3:p.Tyr184=
ENST00000485515.5:n.486C>T
ENST00000491274.5:c.510C>T	ENSP00000480482.1:p.Tyr170=
NM_003000.2:c.552C>T , LRG_316t1:c.552C>T	NP_002991.2:p.Tyr184=
NM_003000.3:c.552C>T MANE Select	NP_002991.2:p.Tyr184=