Canonical Allele Identifier: CA338230591
Gene: SDHB HGNC NCBI

Linked Data

gnomAD v4: 1-17053950-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17053950G>T , CM000663.2:g.17053950G>T GRCh38
NC_000001.10:g.17380445G>T , CM000663.1:g.17380445G>T GRCh37
NC_000001.9:g.17253032G>T NCBI36
NG_012340.1:g.5221C>A , LRG_316:g.5221C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000375499.8:c.70C>A MANE Select ENSP00000364649.3:p.Gln24Lys
ENST00000375499.7:c.70C>A ENSP00000364649.3:p.Gln24Lys
ENST00000466613.2:n.82C>A
ENST00000485515.5:n.58C>A
NM_003000.2:c.70C>A , LRG_316t1:c.70C>A NP_002991.2:p.Gln24Lys
NM_003000.3:c.70C>A MANE Select NP_002991.2:p.Gln24Lys