Canonical Allele Identifier: CA382617216

Gene: SDHD

Linked Data

• ClinVar Variation Id: 1784382
• ClinVar RCV Id: RCV002417319
• COSMIC: COSM1351279
• MyVariant Identifiers: chr11:g.111959621C>T (hg19) ; chr11:g.112088897C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112088897C>T , CM000673.2:g.112088897C>T	GRCh38
NC_000011.9:g.111959621C>T , CM000673.1:g.111959621C>T	GRCh37
NC_000011.8:g.111464831C>T	NCBI36
NG_012337.2:g.7051C>T
NG_033145.1:g.2902G>A
NG_012337.3:g.7051C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000530923.6:c.200C>T	ENSP00000432946.2:p.Thr67Ile
ENST00000534010.2:c.200C>T	ENSP00000433202.2:p.Thr67Ile
ENST00000375549.8:c.200C>T MANE Select	ENSP00000364699.3:p.Thr67Ile
ENST00000528021.6:c.200C>T	ENSP00000432465.1:p.Thr67Ile
ENST00000640554.1:c.*272C>T	ENSP00000491141.1:n.*272C>T
ENST00000375549.7:c.200C>T	ENSP00000364699.3:p.Thr67Ile
ENST00000525291.5:c.83C>T	ENSP00000436669.1:p.Thr28Ile
ENST00000525987.5:n.205C>T
ENST00000526592.5:c.200C>T	ENSP00000432005.1:p.Thr67Ile
ENST00000528021.5:c.200C>T	ENSP00000432465.1:p.Thr67Ile
ENST00000528048.5:c.169+924C>T	ENSP00000436217.1:n.169+924C>T
ENST00000528182.5:c.200C>T	ENSP00000435475.1:p.Thr67Ile
ENST00000530923.5:c.190C>T
ENST00000531744.5:c.200C>T	ENSP00000456957.1:p.Thr67Ile
ENST00000532699.1:c.200C>T	ENSP00000456434.1:p.Thr67Ile
ENST00000534010.1:c.31C>T
ENST00000614349.4:c.200C>T	ENSP00000480666.1:p.Thr67Ile
NM_001276503.1:c.169+924C>T	NP_001263432.1:n.169+924C>T
NM_001276504.1:c.83C>T	NP_001263433.1:p.Thr28Ile
NM_001276506.1:c.200C>T	NP_001263435.1:p.Thr67Ile
NM_003002.3:c.200C>T	NP_002993.1:p.Thr67Ile
NR_077060.1:n.284C>T
NM_003002.4:c.200C>T MANE Select	NP_002993.1:p.Thr67Ile
NM_001276503.2:c.169+924C>T	NP_001263432.1:n.169+924C>T
NM_001276504.2:c.83C>T	NP_001263433.1:p.Thr28Ile
NM_001276506.2:c.200C>T	NP_001263435.1:p.Thr67Ile
NR_077060.2:n.235C>T