Canonical Allele Identifier: CA338274207

Gene: SDHB

Linked Data

• MyVariant Identifiers: chr1:g.17355124G>A (hg19) ; chr1:g.17028629G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028629G>A , CM000663.2:g.17028629G>A	GRCh38
NC_000001.10:g.17355124G>A , CM000663.1:g.17355124G>A	GRCh37
NC_000001.9:g.17227711G>A	NCBI36
NG_012340.1:g.30542C>T , LRG_316:g.30542C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.223C>T	ENSP00000481376.2:p.His75Tyr
ENST00000491274.6:c.352C>T	ENSP00000480482.2:p.His118Tyr
ENST00000375499.8:c.394C>T MANE Select	ENSP00000364649.3:p.His132Tyr
ENST00000375499.7:c.394C>T	ENSP00000364649.3:p.His132Tyr
ENST00000463045.2:c.223C>T	ENSP00000481376.1:p.His75Tyr
ENST00000475506.1:n.311C>T
ENST00000485515.5:n.357+25C>T
ENST00000491274.5:c.352C>T	ENSP00000480482.1:p.His118Tyr
NM_003000.2:c.394C>T , LRG_316t1:c.394C>T	NP_002991.2:p.His132Tyr
NM_003000.3:c.394C>T MANE Select	NP_002991.2:p.His132Tyr