Canonical Allele Identifier: CA10577680
Community Standard Title: NM_003000.3(SDHB):c.194T>A (p.Leu65His)
Gene: SDHB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17044767A>T , CM000663.2:g.17044767A>T GRCh38
NC_000001.10:g.17371262A>T , CM000663.1:g.17371262A>T GRCh37
NC_000001.9:g.17243849A>T NCBI36
NG_012340.1:g.14404T>A , LRG_316:g.14404T>A

Transcript Alleles

HGVS Amino-acid Change
NM_003000.3:c.194T>A MANE Select NP_002991.2:p.Leu65His
ENST00000375499.8:c.194T>A MANE Select ENSP00000364649.3:p.Leu65His
NM_003000.2:c.194T>A , LRG_316t1:c.194T>A NP_002991.2:p.Leu65His
ENST00000375499.7:c.194T>A ENSP00000364649.3:p.Leu65His
ENST00000463045.2:c.23T>A ENSP00000481376.1:p.Leu8His
ENST00000463045.3:c.23T>A ENSP00000481376.2:p.Leu8His
ENST00000466613.2:n.206T>A
ENST00000475506.1:n.111T>A
ENST00000485515.5:n.182T>A
ENST00000491274.5:c.152T>A ENSP00000480482.1:p.Leu51His
ENST00000491274.6:c.152T>A ENSP00000480482.2:p.Leu51His