Canonical Allele Identifier: CA382618792

Gene: SDHD

Linked Data

• gnomAD v4: 11-112094819-T-C
• MyVariant Identifiers: chr11:g.111965543T>C (hg19) ; chr11:g.112094819T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094819T>C , CM000673.2:g.112094819T>C	GRCh38
NC_000011.9:g.111965543T>C , CM000673.1:g.111965543T>C	GRCh37
NC_000011.8:g.111470753T>C	NCBI36
NG_012337.2:g.12973T>C
NG_012337.3:g.12973T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*68T>C	ENSP00000432946.2:n.*68T>C
ENST00000534010.2:c.314+5808T>C	ENSP00000433202.2:n.314+5808T>C
ENST00000375549.8:c.329T>C MANE Select	ENSP00000364699.3:p.Val110Ala
ENST00000528021.6:c.314+5808T>C	ENSP00000432465.1:n.314+5808T>C
ENST00000375549.7:c.329T>C	ENSP00000364699.3:p.Val110Ala
ENST00000525291.5:c.212T>C	ENSP00000436669.1:p.Val71Ala
ENST00000525987.5:n.319+5808T>C
ENST00000526592.5:c.*27T>C	ENSP00000432005.1:n.*27T>C
ENST00000528021.5:c.314+5808T>C	ENSP00000432465.1:n.314+5808T>C
ENST00000528048.5:c.184T>C	ENSP00000436217.1:p.Leu62=
ENST00000528182.5:c.322T>C	ENSP00000435475.1:p.Leu108=
ENST00000530923.5:c.373T>C
ENST00000531744.5:c.314+5808T>C	ENSP00000456957.1:n.314+5808T>C
ENST00000532699.1:c.314+5808T>C	ENSP00000456434.1:n.314+5808T>C
ENST00000534010.1:c.145+5808T>C
NM_001276503.1:c.184T>C	NP_001263432.1:p.Leu62=
NM_001276504.1:c.212T>C	NP_001263433.1:p.Val71Ala
NM_001276506.1:c.*27T>C	NP_001263435.1:n.*27T>C
NM_003002.3:c.329T>C	NP_002993.1:p.Val110Ala
NR_077060.1:n.467T>C
NM_003002.4:c.329T>C MANE Select	NP_002993.1:p.Val110Ala
NM_001276503.2:c.184T>C	NP_001263432.1:p.Leu62=
NM_001276504.2:c.212T>C	NP_001263433.1:p.Val71Ala
NM_001276506.2:c.*27T>C	NP_001263435.1:n.*27T>C
NR_077060.2:n.418T>C