Canonical Allele Identifier: CA071521

Gene: SDHD

Linked Data

• ClinVar Variation Id: 302481
• ClinVar RCV Id: RCV000344579 ; RCV000571997 ; RCV000506525 ; RCV002229954 ; RCV002288968 ; RCV003475929
• dbSNP Id: rs192332761
• ExAC: 11:111958581 C / T
• gnomAD v2: 11-111958581-C-T
• gnomAD v3: 11-112087857-C-T
• gnomAD v4: 11-112087857-C-T
• MyVariant Identifiers: chr11:g.111958581C>T (hg19) ; chr11:g.112087857C>T (hg38)
• PubMed: PMID:25695889

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112087857C>T , CM000673.2:g.112087857C>T	GRCh38
NC_000011.9:g.111958581C>T , CM000673.1:g.111958581C>T	GRCh37
NC_000011.8:g.111463791C>T	NCBI36
NG_012337.2:g.6011C>T
NG_033145.1:g.3942G>A
NG_012337.3:g.6011C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.53C>T	ENSP00000432946.2:p.Ala18Val
ENST00000534010.2:c.53C>T	ENSP00000433202.2:p.Ala18Val
ENST00000375549.8:c.53C>T MANE Select	ENSP00000364699.3:p.Ala18Val
ENST00000528021.6:c.53C>T	ENSP00000432465.1:p.Ala18Val
ENST00000640554.1:c.53C>T	ENSP00000491141.1:p.Ala18Val
ENST00000375549.7:c.53C>T	ENSP00000364699.3:p.Ala18Val
ENST00000525291.5:c.52+898C>T	ENSP00000436669.1:n.52+898C>T
ENST00000525987.5:n.58C>T
ENST00000526592.5:c.53C>T	ENSP00000432005.1:p.Ala18Val
ENST00000528021.5:c.53C>T	ENSP00000432465.1:p.Ala18Val
ENST00000528048.5:c.53C>T	ENSP00000436217.1:p.Ala18Val
ENST00000528182.5:c.53C>T	ENSP00000435475.1:p.Ala18Val
ENST00000530923.5:c.43C>T
ENST00000531744.5:c.53C>T	ENSP00000456957.1:p.Ala18Val
ENST00000532699.1:c.53C>T	ENSP00000456434.1:p.Ala18Val
ENST00000614349.4:c.53C>T	ENSP00000480666.1:p.Ala18Val
NM_001276503.1:c.53C>T	NP_001263432.1:p.Ala18Val
NM_001276504.1:c.52+898C>T	NP_001263433.1:n.52+898C>T
NM_001276506.1:c.53C>T	NP_001263435.1:p.Ala18Val
NM_003002.3:c.53C>T	NP_002993.1:p.Ala18Val
NR_077060.1:n.137C>T
NM_003002.4:c.53C>T MANE Select	NP_002993.1:p.Ala18Val
NM_001276503.2:c.53C>T	NP_001263432.1:p.Ala18Val
NM_001276504.2:c.52+898C>T	NP_001263433.1:n.52+898C>T
NM_001276506.2:c.53C>T	NP_001263435.1:p.Ala18Val
NR_077060.2:n.88C>T