Canonical Allele Identifier: CA228551653

Gene: SDHD

Linked Data

• ClinVar Variation Id: 1589098
• ClinVar RCV Id: RCV002117193
• dbSNP Id: rs11547893
• MyVariant Identifiers: chr11:g.111959616C>T (hg19) ; chr11:g.112088892C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112088892C>T , CM000673.2:g.112088892C>T	GRCh38
NC_000011.9:g.111959616C>T , CM000673.1:g.111959616C>T	GRCh37
NC_000011.8:g.111464826C>T	NCBI36
NG_012337.2:g.7046C>T
NG_033145.1:g.2907G>A
NG_012337.3:g.7046C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000530923.6:c.195C>T	ENSP00000432946.2:p.His65=
ENST00000534010.2:c.195C>T	ENSP00000433202.2:p.His65=
ENST00000375549.8:c.195C>T MANE Select	ENSP00000364699.3:p.His65=
ENST00000528021.6:c.195C>T	ENSP00000432465.1:p.His65=
ENST00000640554.1:c.*267C>T	ENSP00000491141.1:n.*267C>T
ENST00000375549.7:c.195C>T	ENSP00000364699.3:p.His65=
ENST00000525291.5:c.78C>T	ENSP00000436669.1:p.His26=
ENST00000525987.5:n.200C>T
ENST00000526592.5:c.195C>T	ENSP00000432005.1:p.His65=
ENST00000528021.5:c.195C>T	ENSP00000432465.1:p.His65=
ENST00000528048.5:c.169+919C>T	ENSP00000436217.1:n.169+919C>T
ENST00000528182.5:c.195C>T	ENSP00000435475.1:p.His65=
ENST00000530923.5:c.185C>T
ENST00000531744.5:c.195C>T	ENSP00000456957.1:p.His65=
ENST00000532699.1:c.195C>T	ENSP00000456434.1:p.His65=
ENST00000534010.1:c.26C>T
ENST00000614349.4:c.195C>T	ENSP00000480666.1:p.His65=
NM_001276503.1:c.169+919C>T	NP_001263432.1:n.169+919C>T
NM_001276504.1:c.78C>T	NP_001263433.1:p.His26=
NM_001276506.1:c.195C>T	NP_001263435.1:p.His65=
NM_003002.3:c.195C>T	NP_002993.1:p.His65=
NR_077060.1:n.279C>T
NM_003002.4:c.195C>T MANE Select	NP_002993.1:p.His65=
NM_001276503.2:c.169+919C>T	NP_001263432.1:n.169+919C>T
NM_001276504.2:c.78C>T	NP_001263433.1:p.His26=
NM_001276506.2:c.195C>T	NP_001263435.1:p.His65=
NR_077060.2:n.230C>T