Canonical Allele Identifier: CA382618819

Gene: SDHD

Linked Data

• ClinVar Variation Id: 2567227
• ClinVar RCV Id: RCV003278397
• MyVariant Identifiers: chr11:g.111965548A>T (hg19) ; chr11:g.112094824A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094824A>T , CM000673.2:g.112094824A>T	GRCh38
NC_000011.9:g.111965548A>T , CM000673.1:g.111965548A>T	GRCh37
NC_000011.8:g.111470758A>T	NCBI36
NG_012337.2:g.12978A>T
NG_012337.3:g.12978A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*73A>T	ENSP00000432946.2:n.*73A>T
ENST00000534010.2:c.314+5813A>T	ENSP00000433202.2:n.314+5813A>T
ENST00000375549.8:c.334A>T MANE Select	ENSP00000364699.3:p.Thr112Ser
ENST00000528021.6:c.314+5813A>T	ENSP00000432465.1:n.314+5813A>T
ENST00000375549.7:c.334A>T	ENSP00000364699.3:p.Thr112Ser
ENST00000525291.5:c.217A>T	ENSP00000436669.1:p.Thr73Ser
ENST00000525987.5:n.319+5813A>T
ENST00000526592.5:c.*32A>T	ENSP00000432005.1:n.*32A>T
ENST00000528021.5:c.314+5813A>T	ENSP00000432465.1:n.314+5813A>T
ENST00000528048.5:c.189A>T	ENSP00000436217.1:p.Leu63Phe
ENST00000528182.5:c.327A>T	ENSP00000435475.1:p.Leu109Phe
ENST00000530923.5:c.378A>T
ENST00000531744.5:c.314+5813A>T	ENSP00000456957.1:n.314+5813A>T
ENST00000532699.1:c.314+5813A>T	ENSP00000456434.1:n.314+5813A>T
ENST00000534010.1:c.145+5813A>T
NM_001276503.1:c.189A>T	NP_001263432.1:p.Leu63Phe
NM_001276504.1:c.217A>T	NP_001263433.1:p.Thr73Ser
NM_001276506.1:c.*32A>T	NP_001263435.1:n.*32A>T
NM_003002.3:c.334A>T	NP_002993.1:p.Thr112Ser
NR_077060.1:n.472A>T
NM_003002.4:c.334A>T MANE Select	NP_002993.1:p.Thr112Ser
NM_001276503.2:c.189A>T	NP_001263432.1:p.Leu63Phe
NM_001276504.2:c.217A>T	NP_001263433.1:p.Thr73Ser
NM_001276506.2:c.*32A>T	NP_001263435.1:n.*32A>T
NR_077060.2:n.423A>T