Canonical Allele Identifier: CA382618953

Gene: SDHD

Linked Data

• ClinVar Variation Id: 1077797
• ClinVar RCV Id: RCV002242999
• dbSNP Id: rs2135277494
• MyVariant Identifiers: chr11:g.111965571C>T (hg19) ; chr11:g.112094847C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094847C>T , CM000673.2:g.112094847C>T	GRCh38
NC_000011.9:g.111965571C>T , CM000673.1:g.111965571C>T	GRCh37
NC_000011.8:g.111470781C>T	NCBI36
NG_012337.2:g.13001C>T
NG_012337.3:g.13001C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*96C>T	ENSP00000432946.2:n.*96C>T
ENST00000534010.2:c.314+5836C>T	ENSP00000433202.2:n.314+5836C>T
ENST00000375549.8:c.357C>T MANE Select	ENSP00000364699.3:p.Ala119=
ENST00000528021.6:c.314+5836C>T	ENSP00000432465.1:n.314+5836C>T
ENST00000375549.7:c.357C>T	ENSP00000364699.3:p.Ala119=
ENST00000525291.5:c.240C>T	ENSP00000436669.1:p.Ala80=
ENST00000525987.5:n.319+5836C>T
ENST00000526592.5:c.*55C>T	ENSP00000432005.1:n.*55C>T
ENST00000528021.5:c.314+5836C>T	ENSP00000432465.1:n.314+5836C>T
ENST00000528048.5:c.212C>T	ENSP00000436217.1:p.Pro71Leu
ENST00000528182.5:c.350C>T	ENSP00000435475.1:p.Pro117Leu
ENST00000530923.5:c.401C>T
ENST00000531744.5:c.314+5836C>T	ENSP00000456957.1:n.314+5836C>T
ENST00000532699.1:c.314+5836C>T	ENSP00000456434.1:n.314+5836C>T
ENST00000534010.1:c.145+5836C>T
NM_001276503.1:c.212C>T	NP_001263432.1:p.Pro71Leu
NM_001276504.1:c.240C>T	NP_001263433.1:p.Ala80=
NM_001276506.1:c.*55C>T	NP_001263435.1:n.*55C>T
NM_003002.3:c.357C>T	NP_002993.1:p.Ala119=
NR_077060.1:n.495C>T
NM_003002.4:c.357C>T MANE Select	NP_002993.1:p.Ala119=
NM_001276503.2:c.212C>T	NP_001263432.1:p.Pro71Leu
NM_001276504.2:c.240C>T	NP_001263433.1:p.Ala80=
NM_001276506.2:c.*55C>T	NP_001263435.1:n.*55C>T
NR_077060.2:n.446C>T