Canonical Allele Identifier: CA338228262

Gene: SDHB

Linked Data

• gnomAD v4: 1-17044848-C-A
• MyVariant Identifiers: chr1:g.17371343C>A (hg19) ; chr1:g.17044848C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17044848C>A , CM000663.2:g.17044848C>A	GRCh38
NC_000001.10:g.17371343C>A , CM000663.1:g.17371343C>A	GRCh37
NC_000001.9:g.17243930C>A	NCBI36
NG_012340.1:g.14323G>T , LRG_316:g.14323G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.-59G>T	ENSP00000481376.2:n.-59G>T
ENST00000491274.6:c.71G>T	ENSP00000480482.2:p.Arg24Leu
ENST00000375499.8:c.113G>T MANE Select	ENSP00000364649.3:p.Arg38Leu
ENST00000375499.7:c.113G>T	ENSP00000364649.3:p.Arg38Leu
ENST00000463045.2:c.-59G>T	ENSP00000481376.1:n.-59G>T
ENST00000466613.2:n.125G>T
ENST00000475506.1:n.30G>T
ENST00000485515.5:n.101G>T
ENST00000491274.5:c.71G>T	ENSP00000480482.1:p.Arg24Leu
NM_003000.2:c.113G>T , LRG_316t1:c.113G>T	NP_002991.2:p.Arg38Leu
NM_003000.3:c.113G>T MANE Select	NP_002991.2:p.Arg38Leu