Canonical Allele Identifier: CA521037375

Gene: SDHB

Linked Data

• dbSNP Id: rs1221218641
• gnomAD v2: 1-17348647-G-A
• gnomAD v3: 1-17022152-G-A
• gnomAD v4: 1-17022152-G-A
• MyVariant Identifiers: chr1:g.17348647G>A (hg19) ; chr1:g.17022152G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022152G>A , CM000663.2:g.17022152G>A	GRCh38
NC_000001.10:g.17348647G>A , CM000663.1:g.17348647G>A	GRCh37
NC_000001.9:g.17221234G>A	NCBI36
NG_012340.1:g.37019C>T , LRG_316:g.37019C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.594+456C>T	ENSP00000481376.2:n.594+456C>T
ENST00000491274.6:c.723+456C>T	ENSP00000480482.2:n.723+456C>T
ENST00000375499.8:c.765+456C>T MANE Select	ENSP00000364649.3:n.765+456C>T
ENST00000375499.7:c.765+456C>T	ENSP00000364649.3:n.765+456C>T
ENST00000475049.5:n.190+456C>T
ENST00000485092.5:n.429+456C>T
NM_003000.2:c.765+456C>T , LRG_316t1:c.765+456C>T	NP_002991.2:n.765+456C>T
NM_003000.3:c.765+456C>T MANE Select	NP_002991.2:n.765+456C>T