Canonical Allele Identifier: CA18662064

Gene: SDHB

Linked Data

• dbSNP Id: rs778914018
• gnomAD v3: 1-17022554-T-C
• gnomAD v4: 1-17022554-T-C
• MyVariant Identifiers: chr1:g.17349049T>C (hg19) ; chr1:g.17022554T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022554T>C , CM000663.2:g.17022554T>C	GRCh38
NC_000001.10:g.17349049T>C , CM000663.1:g.17349049T>C	GRCh37
NC_000001.9:g.17221636T>C	NCBI36
NG_012340.1:g.36617A>G , LRG_316:g.36617A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.594+54A>G	ENSP00000481376.2:n.594+54A>G
ENST00000491274.6:c.723+54A>G	ENSP00000480482.2:n.723+54A>G
ENST00000375499.8:c.765+54A>G MANE Select	ENSP00000364649.3:n.765+54A>G
ENST00000375499.7:c.765+54A>G	ENSP00000364649.3:n.765+54A>G
ENST00000475049.5:n.190+54A>G
ENST00000485092.5:n.429+54A>G
NM_003000.2:c.765+54A>G , LRG_316t1:c.765+54A>G	NP_002991.2:n.765+54A>G
NM_003000.3:c.765+54A>G MANE Select	NP_002991.2:n.765+54A>G