Canonical Allele Identifier: CA228555686

Gene: SDHD

Linked Data

• ClinVar Variation Id: 568296
• ClinVar RCV Id: RCV003163123 ; RCV002544819 ; RCV003472194
• dbSNP Id: rs201726097
• COSMIC: COSM4184377
• MyVariant Identifiers: chr11:g.111965600T>C (hg19) ; chr11:g.112094876T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094876T>C , CM000673.2:g.112094876T>C	GRCh38
NC_000011.9:g.111965600T>C , CM000673.1:g.111965600T>C	GRCh37
NC_000011.8:g.111470810T>C	NCBI36
NG_012337.2:g.13030T>C
NG_012337.3:g.13030T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*125T>C	ENSP00000432946.2:n.*125T>C
ENST00000534010.2:c.314+5865T>C	ENSP00000433202.2:n.314+5865T>C
ENST00000375549.8:c.386T>C MANE Select	ENSP00000364699.3:p.Leu129Ser
ENST00000528021.6:c.314+5865T>C	ENSP00000432465.1:n.314+5865T>C
ENST00000375549.7:c.386T>C	ENSP00000364699.3:p.Leu129Ser
ENST00000525291.5:c.269T>C	ENSP00000436669.1:p.Leu90Ser
ENST00000525987.5:n.319+5865T>C
ENST00000526592.5:c.*84T>C	ENSP00000432005.1:n.*84T>C
ENST00000528021.5:c.314+5865T>C	ENSP00000432465.1:n.314+5865T>C
ENST00000528048.5:c.241T>C	ENSP00000436217.1:p.Trp81Arg
ENST00000528182.5:c.379T>C	ENSP00000435475.1:p.Trp127Arg
ENST00000530923.5:c.430T>C
ENST00000531744.5:c.314+5865T>C	ENSP00000456957.1:n.314+5865T>C
ENST00000532699.1:c.314+5865T>C	ENSP00000456434.1:n.314+5865T>C
ENST00000534010.1:c.145+5865T>C
NM_001276503.1:c.241T>C	NP_001263432.1:p.Trp81Arg
NM_001276504.1:c.269T>C	NP_001263433.1:p.Leu90Ser
NM_001276506.1:c.*84T>C	NP_001263435.1:n.*84T>C
NM_003002.3:c.386T>C	NP_002993.1:p.Leu129Ser
NR_077060.1:n.524T>C
NM_003002.4:c.386T>C MANE Select	NP_002993.1:p.Leu129Ser
NM_001276503.2:c.241T>C	NP_001263432.1:p.Trp81Arg
NM_001276504.2:c.269T>C	NP_001263433.1:p.Leu90Ser
NM_001276506.2:c.*84T>C	NP_001263435.1:n.*84T>C
NR_077060.2:n.475T>C