Canonical Allele Identifier: CA382619039

Gene: SDHD

Linked Data

• MyVariant Identifiers: chr11:g.111965587A>C (hg19) ; chr11:g.112094863A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094863A>C , CM000673.2:g.112094863A>C	GRCh38
NC_000011.9:g.111965587A>C , CM000673.1:g.111965587A>C	GRCh37
NC_000011.8:g.111470797A>C	NCBI36
NG_012337.2:g.13017A>C
NG_012337.3:g.13017A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000530923.6:c.*112A>C	ENSP00000432946.2:n.*112A>C
ENST00000534010.2:c.314+5852A>C	ENSP00000433202.2:n.314+5852A>C
ENST00000375549.8:c.373A>C MANE Select	ENSP00000364699.3:p.Lys125Gln
ENST00000528021.6:c.314+5852A>C	ENSP00000432465.1:n.314+5852A>C
ENST00000375549.7:c.373A>C	ENSP00000364699.3:p.Lys125Gln
ENST00000525291.5:c.256A>C	ENSP00000436669.1:p.Lys86Gln
ENST00000525987.5:n.319+5852A>C
ENST00000526592.5:c.*71A>C	ENSP00000432005.1:n.*71A>C
ENST00000528021.5:c.314+5852A>C	ENSP00000432465.1:n.314+5852A>C
ENST00000528048.5:c.228A>C	ENSP00000436217.1:p.Pro76=
ENST00000528182.5:c.366A>C	ENSP00000435475.1:p.Pro122=
ENST00000530923.5:c.417A>C
ENST00000531744.5:c.314+5852A>C	ENSP00000456957.1:n.314+5852A>C
ENST00000532699.1:c.314+5852A>C	ENSP00000456434.1:n.314+5852A>C
ENST00000534010.1:c.145+5852A>C
NM_001276503.1:c.228A>C	NP_001263432.1:p.Pro76=
NM_001276504.1:c.256A>C	NP_001263433.1:p.Lys86Gln
NM_001276506.1:c.*71A>C	NP_001263435.1:n.*71A>C
NM_003002.3:c.373A>C	NP_002993.1:p.Lys125Gln
NR_077060.1:n.511A>C
NM_003002.4:c.373A>C MANE Select	NP_002993.1:p.Lys125Gln
NM_001276503.2:c.228A>C	NP_001263432.1:p.Pro76=
NM_001276504.2:c.256A>C	NP_001263433.1:p.Lys86Gln
NM_001276506.2:c.*71A>C	NP_001263435.1:n.*71A>C
NR_077060.2:n.462A>C