Canonical Allele Identifier: CA416089348
Community Standard Title: NM_003000.3(SDHB):c.252C>T (p.Asp84=)
Gene: SDHB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17033094G>A , CM000663.2:g.17033094G>A GRCh38
NC_000001.10:g.17359589G>A , CM000663.1:g.17359589G>A GRCh37
NC_000001.9:g.17232176G>A NCBI36
NG_012340.1:g.26077C>T , LRG_316:g.26077C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003000.3:c.252C>T MANE Select NP_002991.2:p.Asp84=
ENST00000375499.8:c.252C>T MANE Select ENSP00000364649.3:p.Asp84=
NM_003000.2:c.252C>T , LRG_316t1:c.252C>T NP_002991.2:p.Asp84=
ENST00000375499.7:c.252C>T ENSP00000364649.3:p.Asp84=
ENST00000463045.2:c.81C>T ENSP00000481376.1:p.Asp27=
ENST00000463045.3:c.81C>T ENSP00000481376.2:p.Asp27=
ENST00000466613.2:n.264C>T
ENST00000475506.1:n.169C>T
ENST00000485515.5:n.240C>T
ENST00000491274.5:c.210C>T ENSP00000480482.1:p.Asp70=
ENST00000491274.6:c.210C>T ENSP00000480482.2:p.Asp70=