Canonical Allele Identifier: CA2000560711

Gene: SDHD

Linked Data

• ClinVar Variation Id: 1015593
• ClinVar RCV Id: RCV002242230 ; RCV002350572
• dbSNP Id: rs1865650219

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112087850_112087854del , CM000673.2:g.112087850_112087854del	GRCh38
NC_000011.9:g.111958574_111958578del , CM000673.1:g.111958574_111958578del	GRCh37
NC_000011.8:g.111463784_111463788del	NCBI36
NG_012337.2:g.6004_6008del
NG_033145.1:g.3945_3949del
NG_012337.3:g.6004_6008del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.53-7_53-3del	ENSP00000432946.2:n.53-7_53-3del
ENST00000534010.2:c.53-7_53-3del	ENSP00000433202.2:n.53-7_53-3del
ENST00000375549.8:c.53-7_53-3del MANE Select	ENSP00000364699.3:n.53-7_53-3del
ENST00000528021.6:c.53-7_53-3del	ENSP00000432465.1:n.53-7_53-3del
ENST00000640554.1:c.53-7_53-3del	ENSP00000491141.1:n.53-7_53-3del
ENST00000375549.7:c.53-7_53-3del	ENSP00000364699.3:n.53-7_53-3del
ENST00000525291.5:c.52+891_52+895del	ENSP00000436669.1:n.52+891_52+895del
ENST00000525987.5:n.58-7_58-3del
ENST00000526592.5:c.53-7_53-3del	ENSP00000432005.1:n.53-7_53-3del
ENST00000528021.5:c.53-7_53-3del	ENSP00000432465.1:n.53-7_53-3del
ENST00000528048.5:c.53-7_53-3del	ENSP00000436217.1:n.53-7_53-3del
ENST00000528182.5:c.53-7_53-3del	ENSP00000435475.1:n.53-7_53-3del
ENST00000530923.5:c.43-7_43-3del
ENST00000531744.5:c.53-7_53-3del	ENSP00000456957.1:n.53-7_53-3del
ENST00000532699.1:c.53-7_53-3del	ENSP00000456434.1:n.53-7_53-3del
ENST00000614349.4:c.53-7_53-3del	ENSP00000480666.1:n.53-7_53-3del
NM_001276503.1:c.53-7_53-3del	NP_001263432.1:n.53-7_53-3del
NM_001276504.1:c.52+891_52+895del	NP_001263433.1:n.52+891_52+895del
NM_001276506.1:c.53-7_53-3del	NP_001263435.1:n.53-7_53-3del
NM_003002.3:c.53-7_53-3del	NP_002993.1:n.53-7_53-3del
NR_077060.1:n.137-7_137-3del
NM_003002.4:c.53-7_53-3del MANE Select	NP_002993.1:n.53-7_53-3del
NM_001276503.2:c.53-7_53-3del	NP_001263432.1:n.53-7_53-3del
NM_001276504.2:c.52+891_52+895del	NP_001263433.1:n.52+891_52+895del
NM_001276506.2:c.53-7_53-3del	NP_001263435.1:n.53-7_53-3del
NR_077060.2:n.88-7_88-3del