Canonical Allele Identifier: CA382618852

Gene: SDHD

Linked Data

• ClinVar Variation Id: 438437
• ClinVar RCV Id: RCV000505385 ; RCV001000118 ; RCV002341190 ; RCV002524416
• dbSNP Id: rs1050032491
• gnomAD v4: 11-112094832-T-A
• MyVariant Identifiers: chr11:g.111965556T>A (hg19) ; chr11:g.112094832T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094832T>A , CM000673.2:g.112094832T>A	GRCh38
NC_000011.9:g.111965556T>A , CM000673.1:g.111965556T>A	GRCh37
NC_000011.8:g.111470766T>A	NCBI36
NG_012337.2:g.12986T>A
NG_012337.3:g.12986T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*81T>A	ENSP00000432946.2:n.*81T>A
ENST00000534010.2:c.314+5821T>A	ENSP00000433202.2:n.314+5821T>A
ENST00000375549.8:c.342T>A MANE Select	ENSP00000364699.3:p.Tyr114Ter
ENST00000528021.6:c.314+5821T>A	ENSP00000432465.1:n.314+5821T>A
ENST00000375549.7:c.342T>A	ENSP00000364699.3:p.Tyr114Ter
ENST00000525291.5:c.225T>A	ENSP00000436669.1:p.Tyr75Ter
ENST00000525987.5:n.319+5821T>A
ENST00000526592.5:c.*40T>A	ENSP00000432005.1:n.*40T>A
ENST00000528021.5:c.314+5821T>A	ENSP00000432465.1:n.314+5821T>A
ENST00000528048.5:c.197T>A	ENSP00000436217.1:p.Met66Lys
ENST00000528182.5:c.335T>A	ENSP00000435475.1:p.Met112Lys
ENST00000530923.5:c.386T>A
ENST00000531744.5:c.314+5821T>A	ENSP00000456957.1:n.314+5821T>A
ENST00000532699.1:c.314+5821T>A	ENSP00000456434.1:n.314+5821T>A
ENST00000534010.1:c.145+5821T>A
NM_001276503.1:c.197T>A	NP_001263432.1:p.Met66Lys
NM_001276504.1:c.225T>A	NP_001263433.1:p.Tyr75Ter
NM_001276506.1:c.*40T>A	NP_001263435.1:n.*40T>A
NM_003002.3:c.342T>A	NP_002993.1:p.Tyr114Ter
NR_077060.1:n.480T>A
NM_003002.4:c.342T>A MANE Select	NP_002993.1:p.Tyr114Ter
NM_001276503.2:c.197T>A	NP_001263432.1:p.Met66Lys
NM_001276504.2:c.225T>A	NP_001263433.1:p.Tyr75Ter
NM_001276506.2:c.*40T>A	NP_001263435.1:n.*40T>A
NR_077060.2:n.431T>A