Canonical Allele Identifier: CA382617149

Gene: SDHD

Linked Data

• ClinVar Variation Id: 438434
• ClinVar RCV Id: RCV000505295 ; RCV002524414 ; RCV002413385
• dbSNP Id: rs1306475361
• gnomAD v2: 11-111959590-G-T
• MyVariant Identifiers: chr11:g.111959590G>T (hg19) ; chr11:g.112088866G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112088866G>T , CM000673.2:g.112088866G>T	GRCh38
NC_000011.9:g.111959590G>T , CM000673.1:g.111959590G>T	GRCh37
NC_000011.8:g.111464800G>T	NCBI36
NG_012337.2:g.7020G>T
NG_033145.1:g.2933C>A
NG_012337.3:g.7020G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.170-1G>T	ENSP00000432946.2:n.170-1G>T
ENST00000534010.2:c.170-1G>T	ENSP00000433202.2:n.170-1G>T
ENST00000375549.8:c.170-1G>T MANE Select	ENSP00000364699.3:n.170-1G>T
ENST00000528021.6:c.170-1G>T	ENSP00000432465.1:n.170-1G>T
ENST00000640554.1:c.*242-1G>T	ENSP00000491141.1:n.*242-1G>T
ENST00000375549.7:c.170-1G>T	ENSP00000364699.3:n.170-1G>T
ENST00000525291.5:c.53-1G>T	ENSP00000436669.1:n.53-1G>T
ENST00000525987.5:n.175-1G>T
ENST00000526592.5:c.170-1G>T	ENSP00000432005.1:n.170-1G>T
ENST00000528021.5:c.170-1G>T	ENSP00000432465.1:n.170-1G>T
ENST00000528048.5:c.169+893G>T	ENSP00000436217.1:n.169+893G>T
ENST00000528182.5:c.170-1G>T	ENSP00000435475.1:n.170-1G>T
ENST00000530923.5:c.160-1G>T
ENST00000531744.5:c.170-1G>T	ENSP00000456957.1:n.170-1G>T
ENST00000532699.1:c.170-1G>T	ENSP00000456434.1:n.170-1G>T
ENST00000614349.4:c.170-1G>T	ENSP00000480666.1:n.170-1G>T
NM_001276503.1:c.169+893G>T	NP_001263432.1:n.169+893G>T
NM_001276504.1:c.53-1G>T	NP_001263433.1:n.53-1G>T
NM_001276506.1:c.170-1G>T	NP_001263435.1:n.170-1G>T
NM_003002.3:c.170-1G>T	NP_002993.1:n.170-1G>T
NR_077060.1:n.254-1G>T
NM_003002.4:c.170-1G>T MANE Select	NP_002993.1:n.170-1G>T
NM_001276503.2:c.169+893G>T	NP_001263432.1:n.169+893G>T
NM_001276504.2:c.53-1G>T	NP_001263433.1:n.53-1G>T
NM_001276506.2:c.170-1G>T	NP_001263435.1:n.170-1G>T
NR_077060.2:n.205-1G>T