Canonical Allele Identifier: CA338274132

Gene: SDHB

Linked Data

• dbSNP Id: rs1392546433
• MyVariant Identifiers: chr1:g.17355121T>G (hg19) ; chr1:g.17028626T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028626T>G , CM000663.2:g.17028626T>G	GRCh38
NC_000001.10:g.17355121T>G , CM000663.1:g.17355121T>G	GRCh37
NC_000001.9:g.17227708T>G	NCBI36
NG_012340.1:g.30545A>C , LRG_316:g.30545A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.226A>C	ENSP00000481376.2:p.Met76Leu
ENST00000491274.6:c.355A>C	ENSP00000480482.2:p.Met119Leu
ENST00000375499.8:c.397A>C MANE Select	ENSP00000364649.3:p.Met133Leu
ENST00000375499.7:c.397A>C	ENSP00000364649.3:p.Met133Leu
ENST00000463045.2:c.226A>C	ENSP00000481376.1:p.Met76Leu
ENST00000475506.1:n.314A>C
ENST00000485515.5:n.357+28A>C
ENST00000491274.5:c.355A>C	ENSP00000480482.1:p.Met119Leu
NM_003000.2:c.397A>C , LRG_316t1:c.397A>C	NP_002991.2:p.Met133Leu
NM_003000.3:c.397A>C MANE Select	NP_002991.2:p.Met133Leu