Canonical Allele Identifier: CA338271085
Gene: SDHB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17024019T>A , CM000663.2:g.17024019T>A GRCh38
NC_000001.10:g.17350514T>A , CM000663.1:g.17350514T>A GRCh37
NC_000001.9:g.17223101T>A NCBI36
NG_012340.1:g.35152A>T , LRG_316:g.35152A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000463045.3:c.425A>T ENSP00000481376.2:p.Tyr142Phe
ENST00000491274.6:c.554A>T ENSP00000480482.2:p.Tyr185Phe
ENST00000375499.8:c.596A>T MANE Select ENSP00000364649.3:p.Tyr199Phe
ENST00000375499.7:c.596A>T ENSP00000364649.3:p.Tyr199Phe
ENST00000485515.5:n.530A>T
ENST00000491274.5:c.554A>T ENSP00000480482.1:p.Tyr185Phe
NM_003000.2:c.596A>T , LRG_316t1:c.596A>T NP_002991.2:p.Tyr199Phe
NM_003000.3:c.596A>T MANE Select NP_002991.2:p.Tyr199Phe