Canonical Allele Identifier: CA338272409

Gene: SDHB

Linked Data

• gnomAD v4: 1-17027751-G-T
• MyVariant Identifiers: chr1:g.17354246G>T (hg19) ; chr1:g.17027751G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027751G>T , CM000663.2:g.17027751G>T	GRCh38
NC_000001.10:g.17354246G>T , CM000663.1:g.17354246G>T	GRCh37
NC_000001.9:g.17226833G>T	NCBI36
NG_012340.1:g.31420C>A , LRG_316:g.31420C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.367C>A	ENSP00000481376.2:p.Leu123Met
ENST00000491274.6:c.496C>A	ENSP00000480482.2:p.Leu166Met
ENST00000375499.8:c.538C>A MANE Select	ENSP00000364649.3:p.Leu180Met
ENST00000375499.7:c.538C>A	ENSP00000364649.3:p.Leu180Met
ENST00000463045.2:c.367C>A	ENSP00000481376.1:p.Leu123Met
ENST00000475506.1:n.455C>A
ENST00000485515.5:n.472C>A
ENST00000491274.5:c.496C>A	ENSP00000480482.1:p.Leu166Met
NM_003000.2:c.538C>A , LRG_316t1:c.538C>A	NP_002991.2:p.Leu180Met
NM_003000.3:c.538C>A MANE Select	NP_002991.2:p.Leu180Met