Canonical Allele Identifier: CA476790378

Gene: SDHD

Linked Data

• ClinVar Variation Id: 1090981
• ClinVar RCV Id: RCV002243111
• dbSNP Id: rs2135269373
• MyVariant Identifiers: chr11:g.111959640T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112088916T>C , CM000673.2:g.112088916T>C	GRCh38
NC_000011.9:g.111959640T>C , CM000673.1:g.111959640T>C	GRCh37
NC_000011.8:g.111464850T>C	NCBI36
NG_012337.2:g.7070T>C
NG_033145.1:g.2883A>G
NG_012337.3:g.7070T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.219T>C	ENSP00000432946.2:p.Ser73=
ENST00000534010.2:c.219T>C	ENSP00000433202.2:p.Ser73=
ENST00000375549.8:c.219T>C MANE Select	ENSP00000364699.3:p.Ser73=
ENST00000528021.6:c.219T>C	ENSP00000432465.1:p.Ser73=
ENST00000640554.1:c.*291T>C	ENSP00000491141.1:n.*291T>C
ENST00000375549.7:c.219T>C	ENSP00000364699.3:p.Ser73=
ENST00000525291.5:c.102T>C	ENSP00000436669.1:p.Ser34=
ENST00000525987.5:n.224T>C
ENST00000526592.5:c.219T>C	ENSP00000432005.1:p.Ser73=
ENST00000528021.5:c.219T>C	ENSP00000432465.1:p.Ser73=
ENST00000528048.5:c.169+943T>C	ENSP00000436217.1:n.169+943T>C
ENST00000528182.5:c.219T>C	ENSP00000435475.1:p.Ser73=
ENST00000530923.5:c.209T>C
ENST00000531744.5:c.219T>C	ENSP00000456957.1:p.Ser73=
ENST00000532699.1:c.219T>C	ENSP00000456434.1:p.Ser73=
ENST00000534010.1:c.50T>C
ENST00000614349.4:c.219T>C	ENSP00000480666.1:p.Ser73=
NM_001276503.1:c.169+943T>C	NP_001263432.1:n.169+943T>C
NM_001276504.1:c.102T>C	NP_001263433.1:p.Ser34=
NM_001276506.1:c.219T>C	NP_001263435.1:p.Ser73=
NM_003002.3:c.219T>C	NP_002993.1:p.Ser73=
NR_077060.1:n.303T>C
NM_003002.4:c.219T>C MANE Select	NP_002993.1:p.Ser73=
NM_001276503.2:c.169+943T>C	NP_001263432.1:n.169+943T>C
NM_001276504.2:c.102T>C	NP_001263433.1:p.Ser34=
NM_001276506.2:c.219T>C	NP_001263435.1:p.Ser73=
NR_077060.2:n.254T>C