Canonical Allele Identifier: CA089512

Gene: SDHB

Linked Data

• dbSNP Id: rs748333077
• ExAC: 1:17345366 A / G
• gnomAD v2: 1-17345366-A-G
• gnomAD v4: 1-17018871-A-G
• MyVariant Identifiers: chr1:g.17345366A>G (hg19) ; chr1:g.17018871A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17018871A>G , CM000663.2:g.17018871A>G	GRCh38
NC_000001.10:g.17345366A>G , CM000663.1:g.17345366A>G	GRCh37
NC_000001.9:g.17217953A>G	NCBI36
NG_012340.1:g.40300T>C , LRG_316:g.40300T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.*10T>C	ENSP00000481376.2:n.*10T>C
ENST00000491274.6:c.*10T>C	ENSP00000480482.2:n.*10T>C
ENST00000375499.8:c.*10T>C MANE Select	ENSP00000364649.3:n.*10T>C
ENST00000375499.7:c.*10T>C	ENSP00000364649.3:n.*10T>C
ENST00000475049.5:n.278T>C
ENST00000485092.5:n.517T>C
NM_003000.2:c.*10T>C , LRG_316t1:c.*10T>C	NP_002991.2:n.*10T>C
NM_003000.3:c.*10T>C MANE Select	NP_002991.2:n.*10T>C