Canonical Allele Identifier: CA338273498

Gene: SDHB

Linked Data

• MyVariant Identifiers: chr1:g.17354355C>G (hg19) ; chr1:g.17027860C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027860C>G , CM000663.2:g.17027860C>G	GRCh38
NC_000001.10:g.17354355C>G , CM000663.1:g.17354355C>G	GRCh37
NC_000001.9:g.17226942C>G	NCBI36
NG_012340.1:g.31311G>C , LRG_316:g.31311G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.258G>C	ENSP00000481376.2:p.Leu86Phe
ENST00000491274.6:c.387G>C	ENSP00000480482.2:p.Leu129Phe
ENST00000375499.8:c.429G>C MANE Select	ENSP00000364649.3:p.Leu143Phe
ENST00000375499.7:c.429G>C	ENSP00000364649.3:p.Leu143Phe
ENST00000463045.2:c.258G>C	ENSP00000481376.1:p.Leu86Phe
ENST00000475506.1:n.346G>C
ENST00000485515.5:n.363G>C
ENST00000491274.5:c.387G>C	ENSP00000480482.1:p.Leu129Phe
NM_003000.2:c.429G>C , LRG_316t1:c.429G>C	NP_002991.2:p.Leu143Phe
NM_003000.3:c.429G>C MANE Select	NP_002991.2:p.Leu143Phe