Canonical Allele Identifier: CA382618862

Gene: SDHD

Linked Data

• MyVariant Identifiers: chr11:g.111965558T>A (hg19) ; chr11:g.112094834T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094834T>A , CM000673.2:g.112094834T>A	GRCh38
NC_000011.9:g.111965558T>A , CM000673.1:g.111965558T>A	GRCh37
NC_000011.8:g.111470768T>A	NCBI36
NG_012337.2:g.12988T>A
NG_012337.3:g.12988T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000530923.6:c.*83T>A	ENSP00000432946.2:n.*83T>A
ENST00000534010.2:c.314+5823T>A	ENSP00000433202.2:n.314+5823T>A
ENST00000375549.8:c.344T>A MANE Select	ENSP00000364699.3:p.Val115Asp
ENST00000528021.6:c.314+5823T>A	ENSP00000432465.1:n.314+5823T>A
ENST00000375549.7:c.344T>A	ENSP00000364699.3:p.Val115Asp
ENST00000525291.5:c.227T>A	ENSP00000436669.1:p.Val76Asp
ENST00000525987.5:n.319+5823T>A
ENST00000526592.5:c.*42T>A	ENSP00000432005.1:n.*42T>A
ENST00000528021.5:c.314+5823T>A	ENSP00000432465.1:n.314+5823T>A
ENST00000528048.5:c.199T>A	ENSP00000436217.1:p.Phe67Ile
ENST00000528182.5:c.337T>A	ENSP00000435475.1:p.Phe113Ile
ENST00000530923.5:c.388T>A
ENST00000531744.5:c.314+5823T>A	ENSP00000456957.1:n.314+5823T>A
ENST00000532699.1:c.314+5823T>A	ENSP00000456434.1:n.314+5823T>A
ENST00000534010.1:c.145+5823T>A
NM_001276503.1:c.199T>A	NP_001263432.1:p.Phe67Ile
NM_001276504.1:c.227T>A	NP_001263433.1:p.Val76Asp
NM_001276506.1:c.*42T>A	NP_001263435.1:n.*42T>A
NM_003002.3:c.344T>A	NP_002993.1:p.Val115Asp
NR_077060.1:n.482T>A
NM_003002.4:c.344T>A MANE Select	NP_002993.1:p.Val115Asp
NM_001276503.2:c.199T>A	NP_001263432.1:p.Phe67Ile
NM_001276504.2:c.227T>A	NP_001263433.1:p.Val76Asp
NM_001276506.2:c.*42T>A	NP_001263435.1:n.*42T>A
NR_077060.2:n.433T>A