Canonical Allele Identifier: CA016688

Gene: SDHD

Linked Data

• ClinVar Variation Id: 6896
• ClinVar RCV Id: RCV000007303 ; RCV000007304 ; RCV000020519 ; RCV000162448 ; RCV000216073 ; RCV000763227 ; RCV002221470 ; RCV002228002 ; RCV003472995
• dbSNP Id: rs80338844
• gnomAD v2: 11-111959663-C-T
• gnomAD v3: 11-112088939-C-T
• gnomAD v4: 11-112088939-C-T
• MyVariant Identifiers: chr11:g.111959663C>T (hg19) ; chr11:g.112088939C>T (hg38)
• PubMed: PMID:10657297 ; PMID:11156372 ; PMID:11343322 ; PMID:11391796 ; PMID:11391798 ; PMID:11897817 ; PMID:12811540 ; PMID:15479192 ; PMID:17102085 ; PMID:19454582 ; PMID:20301715 ; PMID:22290790 ; PMID:23175444 ; PMID:23433498 ; PMID:23666964 ; PMID:24102379 ; PMID:24436918 ; PMID:24758185 ; PMID:25014000 ; PMID:25326637 ; PMID:25494863 ; PMID:25695889

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112088939C>T , CM000673.2:g.112088939C>T	GRCh38
NC_000011.9:g.111959663C>T , CM000673.1:g.111959663C>T	GRCh37
NC_000011.8:g.111464873C>T	NCBI36
NG_012337.2:g.7093C>T
NG_033145.1:g.2860G>A
NG_012337.3:g.7093C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.242C>T	ENSP00000432946.2:p.Pro81Leu
ENST00000534010.2:c.242C>T	ENSP00000433202.2:p.Pro81Leu
ENST00000375549.8:c.242C>T MANE Select	ENSP00000364699.3:p.Pro81Leu
ENST00000528021.6:c.242C>T	ENSP00000432465.1:p.Pro81Leu
ENST00000640554.1:c.*314C>T	ENSP00000491141.1:n.*314C>T
ENST00000375549.7:c.242C>T	ENSP00000364699.3:p.Pro81Leu
ENST00000525291.5:c.125C>T	ENSP00000436669.1:p.Pro42Leu
ENST00000525987.5:n.247C>T
ENST00000526592.5:c.242C>T	ENSP00000432005.1:p.Pro81Leu
ENST00000528021.5:c.242C>T	ENSP00000432465.1:p.Pro81Leu
ENST00000528048.5:c.169+966C>T	ENSP00000436217.1:n.169+966C>T
ENST00000528182.5:c.242C>T	ENSP00000435475.1:p.Pro81Leu
ENST00000530923.5:c.232C>T
ENST00000531744.5:c.242C>T	ENSP00000456957.1:p.Pro81Leu
ENST00000532699.1:c.242C>T	ENSP00000456434.1:p.Pro81Leu
ENST00000534010.1:c.73C>T
ENST00000614349.4:c.242C>T	ENSP00000480666.1:p.Pro81Leu
NM_001276503.1:c.169+966C>T	NP_001263432.1:n.169+966C>T
NM_001276504.1:c.125C>T	NP_001263433.1:p.Pro42Leu
NM_001276506.1:c.242C>T	NP_001263435.1:p.Pro81Leu
NM_003002.3:c.242C>T	NP_002993.1:p.Pro81Leu
NR_077060.1:n.326C>T
NM_003002.4:c.242C>T MANE Select	NP_002993.1:p.Pro81Leu
NM_001276503.2:c.169+966C>T	NP_001263432.1:n.169+966C>T
NM_001276504.2:c.125C>T	NP_001263433.1:p.Pro42Leu
NM_001276506.2:c.242C>T	NP_001263435.1:p.Pro81Leu
NR_077060.2:n.277C>T