Canonical Allele Identifier: CA015729

Gene: SDHB

Linked Data

• ClinVar Variation Id: 165179
• ClinVar RCV Id: RCV000151827 ; RCV000162388 ; RCV000204883 ; RCV000364659 ; RCV000396922 ; RCV001079979
• dbSNP Id: rs11541235
• ExAC: 1:17355218 A / G
• gnomAD v2: 1-17355218-A-G
• gnomAD v3: 1-17028723-A-G
• gnomAD v4: 1-17028723-A-G
• MyVariant Identifiers: chr1:g.17355218A>G (hg19) ; chr1:g.17028723A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028723A>G , CM000663.2:g.17028723A>G	GRCh38
NC_000001.10:g.17355218A>G , CM000663.1:g.17355218A>G	GRCh37
NC_000001.9:g.17227805A>G	NCBI36
NG_012340.1:g.30448T>C , LRG_316:g.30448T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.129T>C	ENSP00000481376.2:p.Ser43=
ENST00000491274.6:c.258T>C	ENSP00000480482.2:p.Ser86=
ENST00000375499.8:c.300T>C MANE Select	ENSP00000364649.3:p.Ser100=
ENST00000375499.7:c.300T>C	ENSP00000364649.3:p.Ser100=
ENST00000463045.2:c.129T>C	ENSP00000481376.1:p.Ser43=
ENST00000475506.1:n.217T>C
ENST00000485515.5:n.288T>C
ENST00000491274.5:c.258T>C	ENSP00000480482.1:p.Ser86=
NM_003000.2:c.300T>C , LRG_316t1:c.300T>C	NP_002991.2:p.Ser100=
NM_003000.3:c.300T>C MANE Select	NP_002991.2:p.Ser100=