Canonical Allele Identifier: CA671750638

Gene: SDHD

Linked Data

• dbSNP Id: rs541860196
• gnomAD v3: 11-112095197-G-T
• gnomAD v4: 11-112095197-G-T
• MyVariant Identifiers: chr11:g.111965921G>T (hg19) ; chr11:g.112095197G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112095197G>T , CM000673.2:g.112095197G>T	GRCh38
NC_000011.9:g.111965921G>T , CM000673.1:g.111965921G>T	GRCh37
NC_000011.8:g.111471131G>T	NCBI36
NG_012337.2:g.13351G>T
NG_012337.3:g.13351G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534010.2:c.314+6186G>T	ENSP00000433202.2:n.314+6186G>T
ENST00000375549.8:c.*227G>T MANE Select	ENSP00000364699.3:n.*227G>T
ENST00000528021.6:c.314+6186G>T	ENSP00000432465.1:n.314+6186G>T
ENST00000375549.7:c.*227G>T	ENSP00000364699.3:n.*227G>T
ENST00000525291.5:c.*227G>T	ENSP00000436669.1:n.*227G>T
ENST00000525987.5:n.319+6186G>T
ENST00000526592.5:c.*405G>T	ENSP00000432005.1:n.*405G>T
ENST00000528021.5:c.314+6186G>T	ENSP00000432465.1:n.314+6186G>T
ENST00000528048.5:c.*304G>T	ENSP00000436217.1:n.*304G>T
ENST00000528182.5:c.*304G>T	ENSP00000435475.1:n.*304G>T
ENST00000531744.5:c.314+6186G>T	ENSP00000456957.1:n.314+6186G>T
ENST00000532699.1:c.314+6186G>T	ENSP00000456434.1:n.314+6186G>T
ENST00000534010.1:c.145+6186G>T
NM_001276503.1:c.*304G>T	NP_001263432.1:n.*304G>T
NM_001276504.1:c.*227G>T	NP_001263433.1:n.*227G>T
NM_001276506.1:c.*405G>T	NP_001263435.1:n.*405G>T
NM_003002.3:c.*227G>T	NP_002993.1:n.*227G>T
NR_077060.1:n.845G>T
NM_003002.4:c.*227G>T MANE Select	NP_002993.1:n.*227G>T
NM_001276503.2:c.*304G>T	NP_001263432.1:n.*304G>T
NM_001276504.2:c.*227G>T	NP_001263433.1:n.*227G>T
NM_001276506.2:c.*405G>T	NP_001263435.1:n.*405G>T
NR_077060.2:n.796G>T