Canonical Allele Identifier: CA10603234

Gene: SDHD

Linked Data

• ClinVar Variation Id: 279889
• ClinVar RCV Id: RCV000349345 ; RCV000492278 ; RCV000505366 ; RCV001523821 ; RCV002229731
• dbSNP Id: rs886041237
• gnomAD v4: 11-112087856-G-GC
• MyVariant Identifiers: chr11:g.111958581dupC (hg19) ; chr11:g.112087857dupC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112087857dup , CM000673.2:g.112087857dup	GRCh38
NC_000011.9:g.111958581dup , CM000673.1:g.111958581dup	GRCh37
NC_000011.8:g.111463791dup	NCBI36
NG_012337.2:g.6011dup
NG_033145.1:g.3942dup
NG_012337.3:g.6011dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.53dup	ENSP00000432946.2:p.Leu19SerfsTer?
ENST00000534010.2:c.53dup	ENSP00000433202.2:p.Leu19SerfsTer?
ENST00000375549.8:c.53dup MANE Select	ENSP00000364699.3:p.Leu19SerfsTer?
ENST00000528021.6:c.53dup	ENSP00000432465.1:p.Leu19SerfsTer?
ENST00000640554.1:c.53dup	ENSP00000491141.1:p.Leu19SerfsTer?
ENST00000375549.7:c.53dup	ENSP00000364699.3:p.Leu19SerfsTer?
ENST00000525291.5:c.52+898dup	ENSP00000436669.1:n.52+898dup
ENST00000525987.5:n.58dup
ENST00000526592.5:c.53dup	ENSP00000432005.1:p.Leu19SerfsTer?
ENST00000528021.5:c.53dup	ENSP00000432465.1:p.Leu19SerfsTer?
ENST00000528048.5:c.53dup	ENSP00000436217.1:p.Leu19SerfsTer?
ENST00000528182.5:c.53dup	ENSP00000435475.1:p.Leu19SerfsTer?
ENST00000530923.5:c.43dup
ENST00000531744.5:c.53dup	ENSP00000456957.1:p.Leu19SerfsTer?
ENST00000532699.1:c.53dup	ENSP00000456434.1:p.Leu19SerfsTer?
ENST00000614349.4:c.53dup	ENSP00000480666.1:p.Leu19SerfsTer?
NM_001276503.1:c.53dup	NP_001263432.1:p.Leu19SerfsTer?
NM_001276504.1:c.52+898dup	NP_001263433.1:n.52+898dup
NM_001276506.1:c.53dup	NP_001263435.1:p.Leu19SerfsTer?
NM_003002.3:c.53dup	NP_002993.1:p.Leu19SerfsTer?
NR_077060.1:n.137dup
NM_003002.4:c.53dup MANE Select	NP_002993.1:p.Leu19SerfsTer?
NM_001276503.2:c.53dup	NP_001263432.1:p.Leu19SerfsTer?
NM_001276504.2:c.52+898dup	NP_001263433.1:n.52+898dup
NM_001276506.2:c.53dup	NP_001263435.1:p.Leu19SerfsTer?
NR_077060.2:n.88dup