Canonical Allele Identifier: CA382619199

Gene: SDHD

Linked Data

• ClinVar Variation Id: 1736587
• ClinVar RCV Id: RCV002321124
• MyVariant Identifiers: chr11:g.111965610A>T (hg19) ; chr11:g.112094886A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094886A>T , CM000673.2:g.112094886A>T	GRCh38
NC_000011.9:g.111965610A>T , CM000673.1:g.111965610A>T	GRCh37
NC_000011.8:g.111470820A>T	NCBI36
NG_012337.2:g.13040A>T
NG_012337.3:g.13040A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000530923.6:c.*135A>T	ENSP00000432946.2:n.*135A>T
ENST00000534010.2:c.314+5875A>T	ENSP00000433202.2:n.314+5875A>T
ENST00000375549.8:c.396A>T MANE Select	ENSP00000364699.3:p.Ser132=
ENST00000528021.6:c.314+5875A>T	ENSP00000432465.1:n.314+5875A>T
ENST00000375549.7:c.396A>T	ENSP00000364699.3:p.Ser132=
ENST00000525291.5:c.279A>T	ENSP00000436669.1:p.Ser93=
ENST00000525987.5:n.319+5875A>T
ENST00000526592.5:c.*94A>T	ENSP00000432005.1:n.*94A>T
ENST00000528021.5:c.314+5875A>T	ENSP00000432465.1:n.314+5875A>T
ENST00000528048.5:c.251A>T	ENSP00000436217.1:p.Gln84Leu
ENST00000528182.5:c.389A>T	ENSP00000435475.1:p.Gln130Leu
ENST00000530923.5:c.440A>T
ENST00000531744.5:c.314+5875A>T	ENSP00000456957.1:n.314+5875A>T
ENST00000532699.1:c.314+5875A>T	ENSP00000456434.1:n.314+5875A>T
ENST00000534010.1:c.145+5875A>T
NM_001276503.1:c.251A>T	NP_001263432.1:p.Gln84Leu
NM_001276504.1:c.279A>T	NP_001263433.1:p.Ser93=
NM_001276506.1:c.*94A>T	NP_001263435.1:n.*94A>T
NM_003002.3:c.396A>T	NP_002993.1:p.Ser132=
NR_077060.1:n.534A>T
NM_003002.4:c.396A>T MANE Select	NP_002993.1:p.Ser132=
NM_001276503.2:c.251A>T	NP_001263432.1:p.Gln84Leu
NM_001276504.2:c.279A>T	NP_001263433.1:p.Ser93=
NM_001276506.2:c.*94A>T	NP_001263435.1:n.*94A>T
NR_077060.2:n.485A>T