Canonical Allele Identifier: CA338275033

Gene: SDHB

Linked Data

• dbSNP Id: rs1310341038
• gnomAD v2: 1-17355207-T-C
• gnomAD v4: 1-17028712-T-C
• MyVariant Identifiers: chr1:g.17355207T>C (hg19) ; chr1:g.17028712T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028712T>C , CM000663.2:g.17028712T>C	GRCh38
NC_000001.10:g.17355207T>C , CM000663.1:g.17355207T>C	GRCh37
NC_000001.9:g.17227794T>C	NCBI36
NG_012340.1:g.30459A>G , LRG_316:g.30459A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.140A>G	ENSP00000481376.2:p.Asn47Ser
ENST00000491274.6:c.269A>G	ENSP00000480482.2:p.Asn90Ser
ENST00000375499.8:c.311A>G MANE Select	ENSP00000364649.3:p.Asn104Ser
ENST00000375499.7:c.311A>G	ENSP00000364649.3:p.Asn104Ser
ENST00000463045.2:c.140A>G	ENSP00000481376.1:p.Asn47Ser
ENST00000475506.1:n.228A>G
ENST00000485515.5:n.299A>G
ENST00000491274.5:c.269A>G	ENSP00000480482.1:p.Asn90Ser
NM_003000.2:c.311A>G , LRG_316t1:c.311A>G	NP_002991.2:p.Asn104Ser
NM_003000.3:c.311A>G MANE Select	NP_002991.2:p.Asn104Ser