Canonical Allele Identifier: CA338228275

Gene: SDHB

Linked Data

• gnomAD v4: 1-17044849-G-T
• MyVariant Identifiers: chr1:g.17371344G>T (hg19) ; chr1:g.17044849G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17044849G>T , CM000663.2:g.17044849G>T	GRCh38
NC_000001.10:g.17371344G>T , CM000663.1:g.17371344G>T	GRCh37
NC_000001.9:g.17243931G>T	NCBI36
NG_012340.1:g.14322C>A , LRG_316:g.14322C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.-60C>A	ENSP00000481376.2:n.-60C>A
ENST00000491274.6:c.70C>A	ENSP00000480482.2:p.Arg24Ser
ENST00000375499.8:c.112C>A MANE Select	ENSP00000364649.3:p.Arg38Ser
ENST00000375499.7:c.112C>A	ENSP00000364649.3:p.Arg38Ser
ENST00000463045.2:c.-60C>A	ENSP00000481376.1:n.-60C>A
ENST00000466613.2:n.124C>A
ENST00000475506.1:n.29C>A
ENST00000485515.5:n.100C>A
ENST00000491274.5:c.70C>A	ENSP00000480482.1:p.Arg24Ser
NM_003000.2:c.112C>A , LRG_316t1:c.112C>A	NP_002991.2:p.Arg38Ser
NM_003000.3:c.112C>A MANE Select	NP_002991.2:p.Arg38Ser