Canonical Allele Identifier: CA338274287

Gene: SDHB

Linked Data

• MyVariant Identifiers: chr1:g.17355132G>T (hg19) ; chr1:g.17028637G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028637G>T , CM000663.2:g.17028637G>T	GRCh38
NC_000001.10:g.17355132G>T , CM000663.1:g.17355132G>T	GRCh37
NC_000001.9:g.17227719G>T	NCBI36
NG_012340.1:g.30534C>A , LRG_316:g.30534C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.215C>A	ENSP00000481376.2:p.Pro72His
ENST00000491274.6:c.344C>A	ENSP00000480482.2:p.Pro115His
ENST00000375499.8:c.386C>A MANE Select	ENSP00000364649.3:p.Pro129His
ENST00000375499.7:c.386C>A	ENSP00000364649.3:p.Pro129His
ENST00000463045.2:c.215C>A	ENSP00000481376.1:p.Pro72His
ENST00000475506.1:n.303C>A
ENST00000485515.5:n.357+17C>A
ENST00000491274.5:c.344C>A	ENSP00000480482.1:p.Pro115His
NM_003000.2:c.386C>A , LRG_316t1:c.386C>A	NP_002991.2:p.Pro129His
NM_003000.3:c.386C>A MANE Select	NP_002991.2:p.Pro129His