Canonical Allele Identifier: CA016696

Gene: SDHD

Linked Data

• ClinVar Variation Id: 135198
• ClinVar RCV Id: RCV000122010 ; RCV000568887 ; RCV002515893
• dbSNP Id: rs199517389
• ExAC: 11:111959676 G / T
• gnomAD v4: 11-112088952-G-T
• MyVariant Identifiers: chr11:g.111959676G>T (hg19) ; chr11:g.112088952G>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112088952G>T , CM000673.2:g.112088952G>T	GRCh38
NC_000011.9:g.111959676G>T , CM000673.1:g.111959676G>T	GRCh37
NC_000011.8:g.111464886G>T	NCBI36
NG_012337.2:g.7106G>T
NG_033145.1:g.2847C>A
NG_012337.3:g.7106G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.255G>T	ENSP00000432946.2:p.Leu85Phe
ENST00000534010.2:c.255G>T	ENSP00000433202.2:p.Leu85Phe
ENST00000375549.8:c.255G>T MANE Select	ENSP00000364699.3:p.Leu85Phe
ENST00000528021.6:c.255G>T	ENSP00000432465.1:p.Leu85Phe
ENST00000640554.1:c.*327G>T	ENSP00000491141.1:n.*327G>T
ENST00000375549.7:c.255G>T	ENSP00000364699.3:p.Leu85Phe
ENST00000525291.5:c.138G>T	ENSP00000436669.1:p.Leu46Phe
ENST00000525987.5:n.260G>T
ENST00000526592.5:c.255G>T	ENSP00000432005.1:p.Leu85Phe
ENST00000528021.5:c.255G>T	ENSP00000432465.1:p.Leu85Phe
ENST00000528048.5:c.169+979G>T	ENSP00000436217.1:n.169+979G>T
ENST00000528182.5:c.255G>T	ENSP00000435475.1:p.Leu85Phe
ENST00000530923.5:c.245G>T
ENST00000531744.5:c.255G>T	ENSP00000456957.1:p.Leu85Phe
ENST00000532699.1:c.255G>T	ENSP00000456434.1:p.Leu85Phe
ENST00000534010.1:c.86G>T
ENST00000614349.4:c.255G>T	ENSP00000480666.1:p.Leu85Phe
NM_001276503.1:c.169+979G>T	NP_001263432.1:n.169+979G>T
NM_001276504.1:c.138G>T	NP_001263433.1:p.Leu46Phe
NM_001276506.1:c.255G>T	NP_001263435.1:p.Leu85Phe
NM_003002.3:c.255G>T	NP_002993.1:p.Leu85Phe
NR_077060.1:n.339G>T
NM_003002.4:c.255G>T MANE Select	NP_002993.1:p.Leu85Phe
NM_001276503.2:c.169+979G>T	NP_001263432.1:n.169+979G>T
NM_001276504.2:c.138G>T	NP_001263433.1:p.Leu46Phe
NM_001276506.2:c.255G>T	NP_001263435.1:p.Leu85Phe
NR_077060.2:n.290G>T