Canonical Allele Identifier: CA18659711

Gene: SDHB

Linked Data

• dbSNP Id: rs1046148519
• gnomAD v4: 1-17018784-T-A
• MyVariant Identifiers: chr1:g.17345279T>A (hg19) ; chr1:g.17018784T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17018784T>A , CM000663.2:g.17018784T>A	GRCh38
NC_000001.10:g.17345279T>A , CM000663.1:g.17345279T>A	GRCh37
NC_000001.9:g.17217866T>A	NCBI36
NG_012340.1:g.40387A>T , LRG_316:g.40387A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.*97A>T	ENSP00000481376.2:n.*97A>T
ENST00000491274.6:c.*97A>T	ENSP00000480482.2:n.*97A>T
ENST00000375499.8:c.*97A>T MANE Select	ENSP00000364649.3:n.*97A>T
ENST00000375499.7:c.*97A>T	ENSP00000364649.3:n.*97A>T
ENST00000475049.5:n.365A>T
ENST00000485092.5:n.604A>T
NM_003000.2:c.*97A>T , LRG_316t1:c.*97A>T	NP_002991.2:n.*97A>T
NM_003000.3:c.*97A>T MANE Select	NP_002991.2:n.*97A>T