Canonical Allele Identifier: CA382618740

Gene: SDHD

Linked Data

• ClinVar Variation Id: 578681
• ClinVar RCV Id: RCV002232918 ; RCV002325415
• dbSNP Id: rs1209781530
• gnomAD v4: 11-112094809-C-T
• MyVariant Identifiers: chr11:g.111965533C>T (hg19) ; chr11:g.112094809C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094809C>T , CM000673.2:g.112094809C>T	GRCh38
NC_000011.9:g.111965533C>T , CM000673.1:g.111965533C>T	GRCh37
NC_000011.8:g.111470743C>T	NCBI36
NG_012337.2:g.12963C>T
NG_012337.3:g.12963C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000530923.6:c.*58C>T	ENSP00000432946.2:n.*58C>T
ENST00000534010.2:c.314+5798C>T	ENSP00000433202.2:n.314+5798C>T
ENST00000375549.8:c.319C>T MANE Select	ENSP00000364699.3:p.Leu107Phe
ENST00000528021.6:c.314+5798C>T	ENSP00000432465.1:n.314+5798C>T
ENST00000375549.7:c.319C>T	ENSP00000364699.3:p.Leu107Phe
ENST00000525291.5:c.202C>T	ENSP00000436669.1:p.Leu68Phe
ENST00000525987.5:n.319+5798C>T
ENST00000526592.5:c.*17C>T	ENSP00000432005.1:n.*17C>T
ENST00000528021.5:c.314+5798C>T	ENSP00000432465.1:n.314+5798C>T
ENST00000528048.5:c.174C>T	ENSP00000436217.1:p.Ala58=
ENST00000528182.5:c.312C>T	ENSP00000435475.1:p.Ala104=
ENST00000530923.5:c.363C>T
ENST00000531744.5:c.314+5798C>T	ENSP00000456957.1:n.314+5798C>T
ENST00000532699.1:c.314+5798C>T	ENSP00000456434.1:n.314+5798C>T
ENST00000534010.1:c.145+5798C>T
NM_001276503.1:c.174C>T	NP_001263432.1:p.Ala58=
NM_001276504.1:c.202C>T	NP_001263433.1:p.Leu68Phe
NM_001276506.1:c.*17C>T	NP_001263435.1:n.*17C>T
NM_003002.3:c.319C>T	NP_002993.1:p.Leu107Phe
NR_077060.1:n.457C>T
NM_003002.4:c.319C>T MANE Select	NP_002993.1:p.Leu107Phe
NM_001276503.2:c.174C>T	NP_001263432.1:p.Ala58=
NM_001276504.2:c.202C>T	NP_001263433.1:p.Leu68Phe
NM_001276506.2:c.*17C>T	NP_001263435.1:n.*17C>T
NR_077060.2:n.408C>T