Canonical Allele Identifier: CA338228149

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1767632
• ClinVar RCV Id: RCV002376483 ; RCV003094846
• MyVariant Identifiers: chr1:g.17371329C>G (hg19) ; chr1:g.17044834C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17044834C>G , CM000663.2:g.17044834C>G	GRCh38
NC_000001.10:g.17371329C>G , CM000663.1:g.17371329C>G	GRCh37
NC_000001.9:g.17243916C>G	NCBI36
NG_012340.1:g.14337G>C , LRG_316:g.14337G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.-45G>C	ENSP00000481376.2:n.-45G>C
ENST00000491274.6:c.85G>C	ENSP00000480482.2:p.Ala29Pro
ENST00000375499.8:c.127G>C MANE Select	ENSP00000364649.3:p.Ala43Pro
ENST00000375499.7:c.127G>C	ENSP00000364649.3:p.Ala43Pro
ENST00000463045.2:c.-45G>C	ENSP00000481376.1:n.-45G>C
ENST00000466613.2:n.139G>C
ENST00000475506.1:n.44G>C
ENST00000485515.5:n.115G>C
ENST00000491274.5:c.85G>C	ENSP00000480482.1:p.Ala29Pro
NM_003000.2:c.127G>C , LRG_316t1:c.127G>C	NP_002991.2:p.Ala43Pro
NM_003000.3:c.127G>C MANE Select	NP_002991.2:p.Ala43Pro