Canonical Allele Identifier: CA338273130

Gene: SDHB

Linked Data

• gnomAD v4: 1-17027832-T-G
• MyVariant Identifiers: chr1:g.17354327T>G (hg19) ; chr1:g.17027832T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027832T>G , CM000663.2:g.17027832T>G	GRCh38
NC_000001.10:g.17354327T>G , CM000663.1:g.17354327T>G	GRCh37
NC_000001.9:g.17226914T>G	NCBI36
NG_012340.1:g.31339A>C , LRG_316:g.31339A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.286A>C	ENSP00000481376.2:p.Ile96Leu
ENST00000491274.6:c.415A>C	ENSP00000480482.2:p.Ile139Leu
ENST00000375499.8:c.457A>C MANE Select	ENSP00000364649.3:p.Ile153Leu
ENST00000375499.7:c.457A>C	ENSP00000364649.3:p.Ile153Leu
ENST00000463045.2:c.286A>C	ENSP00000481376.1:p.Ile96Leu
ENST00000475506.1:n.374A>C
ENST00000485515.5:n.391A>C
ENST00000491274.5:c.415A>C	ENSP00000480482.1:p.Ile139Leu
NM_003000.2:c.457A>C , LRG_316t1:c.457A>C	NP_002991.2:p.Ile153Leu
NM_003000.3:c.457A>C MANE Select	NP_002991.2:p.Ile153Leu