Canonical Allele Identifier: CA338270489

Gene: SDHB

Linked Data

• MyVariant Identifiers: chr1:g.17349214C>A (hg19) ; chr1:g.17022719C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022719C>A , CM000663.2:g.17022719C>A	GRCh38
NC_000001.10:g.17349214C>A , CM000663.1:g.17349214C>A	GRCh37
NC_000001.9:g.17221801C>A	NCBI36
NG_012340.1:g.36452G>T , LRG_316:g.36452G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.483G>T	ENSP00000481376.2:p.Trp161Cys
ENST00000491274.6:c.612G>T	ENSP00000480482.2:p.Trp204Cys
ENST00000375499.8:c.654G>T MANE Select	ENSP00000364649.3:p.Trp218Cys
ENST00000375499.7:c.654G>T	ENSP00000364649.3:p.Trp218Cys
ENST00000475049.5:n.79G>T
ENST00000485092.5:n.318G>T
ENST00000485515.5:n.588G>T
NM_003000.2:c.654G>T , LRG_316t1:c.654G>T	NP_002991.2:p.Trp218Cys
NM_003000.3:c.654G>T MANE Select	NP_002991.2:p.Trp218Cys