Canonical Allele Identifier: CA416086353

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1597265
• ClinVar RCV Id: RCV002105754
• dbSNP Id: rs2101521900
• MyVariant Identifiers: chr1:g.17354349G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027854G>A , CM000663.2:g.17027854G>A	GRCh38
NC_000001.10:g.17354349G>A , CM000663.1:g.17354349G>A	GRCh37
NC_000001.9:g.17226936G>A	NCBI36
NG_012340.1:g.31317C>T , LRG_316:g.31317C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.264C>T	ENSP00000481376.2:p.Asn88=
ENST00000491274.6:c.393C>T	ENSP00000480482.2:p.Asn131=
ENST00000375499.8:c.435C>T MANE Select	ENSP00000364649.3:p.Asn145=
ENST00000375499.7:c.435C>T	ENSP00000364649.3:p.Asn145=
ENST00000463045.2:c.264C>T	ENSP00000481376.1:p.Asn88=
ENST00000475506.1:n.352C>T
ENST00000485515.5:n.369C>T
ENST00000491274.5:c.393C>T	ENSP00000480482.1:p.Asn131=
NM_003000.2:c.435C>T , LRG_316t1:c.435C>T	NP_002991.2:p.Asn145=
NM_003000.3:c.435C>T MANE Select	NP_002991.2:p.Asn145=