Canonical Allele Identifier: CA338270072

Gene: SDHB

Linked Data

• MyVariant Identifiers: chr1:g.17349126T>G (hg19) ; chr1:g.17022631T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022631T>G , CM000663.2:g.17022631T>G	GRCh38
NC_000001.10:g.17349126T>G , CM000663.1:g.17349126T>G	GRCh37
NC_000001.9:g.17221713T>G	NCBI36
NG_012340.1:g.36540A>C , LRG_316:g.36540A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.571A>C	ENSP00000481376.2:p.Asn191His
ENST00000491274.6:c.700A>C	ENSP00000480482.2:p.Asn234His
ENST00000375499.8:c.742A>C MANE Select	ENSP00000364649.3:p.Asn248His
ENST00000375499.7:c.742A>C	ENSP00000364649.3:p.Asn248His
ENST00000475049.5:n.167A>C
ENST00000485092.5:n.406A>C
ENST00000485515.5:n.676A>C
NM_003000.2:c.742A>C , LRG_316t1:c.742A>C	NP_002991.2:p.Asn248His
NM_003000.3:c.742A>C MANE Select	NP_002991.2:p.Asn248His