Canonical Allele Identifier: CA658658106

Gene: SDHD

Linked Data

• ClinVar Variation Id: 486445
• ClinVar RCV Id: RCV000566193 ; RCV002526918
• dbSNP Id: rs1555187084
• gnomAD v4: 11-112089014-A-C
• MyVariant Identifiers: chr11:g.111959738A>C (hg19) ; chr11:g.112089014A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112089014A>C , CM000673.2:g.112089014A>C	GRCh38
NC_000011.9:g.111959738A>C , CM000673.1:g.111959738A>C	GRCh37
NC_000011.8:g.111464948A>C	NCBI36
NG_012337.2:g.7168A>C
NG_033145.1:g.2785T>G
NG_012337.3:g.7168A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.314+3A>C	ENSP00000432946.2:n.314+3A>C
ENST00000534010.2:c.314+3A>C	ENSP00000433202.2:n.314+3A>C
ENST00000375549.8:c.314+3A>C MANE Select	ENSP00000364699.3:n.314+3A>C
ENST00000528021.6:c.314+3A>C	ENSP00000432465.1:n.314+3A>C
ENST00000640554.1:c.*389A>C	ENSP00000491141.1:n.*389A>C
ENST00000375549.7:c.314+3A>C	ENSP00000364699.3:n.314+3A>C
ENST00000525291.5:c.197+3A>C	ENSP00000436669.1:n.197+3A>C
ENST00000525987.5:n.319+3A>C
ENST00000526592.5:c.314+3A>C	ENSP00000432005.1:n.314+3A>C
ENST00000528021.5:c.314+3A>C	ENSP00000432465.1:n.314+3A>C
ENST00000528048.5:c.169+1041A>C	ENSP00000436217.1:n.169+1041A>C
ENST00000528182.5:c.307+10A>C	ENSP00000435475.1:n.307+10A>C
ENST00000530923.5:c.304+3A>C
ENST00000531744.5:c.314+3A>C	ENSP00000456957.1:n.314+3A>C
ENST00000532699.1:c.314+3A>C	ENSP00000456434.1:n.314+3A>C
ENST00000534010.1:c.145+3A>C
ENST00000614349.4:c.314+3A>C	ENSP00000480666.1:n.314+3A>C
NM_001276503.1:c.169+1041A>C	NP_001263432.1:n.169+1041A>C
NM_001276504.1:c.197+3A>C	NP_001263433.1:n.197+3A>C
NM_001276506.1:c.314+3A>C	NP_001263435.1:n.314+3A>C
NM_003002.3:c.314+3A>C	NP_002993.1:n.314+3A>C
NR_077060.1:n.398+3A>C
NM_003002.4:c.314+3A>C MANE Select	NP_002993.1:n.314+3A>C
NM_001276503.2:c.169+1041A>C	NP_001263432.1:n.169+1041A>C
NM_001276504.2:c.197+3A>C	NP_001263433.1:n.197+3A>C
NM_001276506.2:c.314+3A>C	NP_001263435.1:n.314+3A>C
NR_077060.2:n.349+3A>C