Canonical Allele Identifier: CA416088029

Gene: SDHB

Linked Data

• ClinVar Variation Id: 2010431
• ClinVar RCV Id: RCV002851032
• MyVariant Identifiers: chr1:g.17355203G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028708G>A , CM000663.2:g.17028708G>A	GRCh38
NC_000001.10:g.17355203G>A , CM000663.1:g.17355203G>A	GRCh37
NC_000001.9:g.17227790G>A	NCBI36
NG_012340.1:g.30463C>T , LRG_316:g.30463C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.144C>T	ENSP00000481376.2:p.Ile48=
ENST00000491274.6:c.273C>T	ENSP00000480482.2:p.Ile91=
ENST00000375499.8:c.315C>T MANE Select	ENSP00000364649.3:p.Ile105=
ENST00000375499.7:c.315C>T	ENSP00000364649.3:p.Ile105=
ENST00000463045.2:c.144C>T	ENSP00000481376.1:p.Ile48=
ENST00000475506.1:n.232C>T
ENST00000485515.5:n.303C>T
ENST00000491274.5:c.273C>T	ENSP00000480482.1:p.Ile91=
NM_003000.2:c.315C>T , LRG_316t1:c.315C>T	NP_002991.2:p.Ile105=
NM_003000.3:c.315C>T MANE Select	NP_002991.2:p.Ile105=