Canonical Allele Identifier: CA338227992

Gene: SDHB

Linked Data

• ClinVar Variation Id: 2447647
• ClinVar RCV Id: RCV003176554 ; RCV003778954
• dbSNP Id: rs1060503765
• MyVariant Identifiers: chr1:g.17371308C>A (hg19) ; chr1:g.17044813C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17044813C>A , CM000663.2:g.17044813C>A	GRCh38
NC_000001.10:g.17371308C>A , CM000663.1:g.17371308C>A	GRCh37
NC_000001.9:g.17243895C>A	NCBI36
NG_012340.1:g.14358G>T , LRG_316:g.14358G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.-24G>T	ENSP00000481376.2:n.-24G>T
ENST00000491274.6:c.106G>T	ENSP00000480482.2:p.Asp36Tyr
ENST00000375499.8:c.148G>T MANE Select	ENSP00000364649.3:p.Asp50Tyr
ENST00000375499.7:c.148G>T	ENSP00000364649.3:p.Asp50Tyr
ENST00000463045.2:c.-24G>T	ENSP00000481376.1:n.-24G>T
ENST00000466613.2:n.160G>T
ENST00000475506.1:n.65G>T
ENST00000485515.5:n.136G>T
ENST00000491274.5:c.106G>T	ENSP00000480482.1:p.Asp36Tyr
NM_003000.2:c.148G>T , LRG_316t1:c.148G>T	NP_002991.2:p.Asp50Tyr
NM_003000.3:c.148G>T MANE Select	NP_002991.2:p.Asp50Tyr