Canonical Allele Identifier: CA382616913

Gene: SDHD

Linked Data

• ClinVar Variation Id: 1750971
• ClinVar RCV Id: RCV002357958
• gnomAD v4: 11-112087863-T-C
• MyVariant Identifiers: chr11:g.111958587T>C (hg19) ; chr11:g.112087863T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112087863T>C , CM000673.2:g.112087863T>C	GRCh38
NC_000011.9:g.111958587T>C , CM000673.1:g.111958587T>C	GRCh37
NC_000011.8:g.111463797T>C	NCBI36
NG_012337.2:g.6017T>C
NG_033145.1:g.3936A>G
NG_012337.3:g.6017T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000530923.6:c.59T>C	ENSP00000432946.2:p.Leu20Ser
ENST00000534010.2:c.59T>C	ENSP00000433202.2:p.Leu20Ser
ENST00000375549.8:c.59T>C MANE Select	ENSP00000364699.3:p.Leu20Ser
ENST00000528021.6:c.59T>C	ENSP00000432465.1:p.Leu20Ser
ENST00000640554.1:c.59T>C	ENSP00000491141.1:p.Leu20Ser
ENST00000375549.7:c.59T>C	ENSP00000364699.3:p.Leu20Ser
ENST00000525291.5:c.52+904T>C	ENSP00000436669.1:n.52+904T>C
ENST00000525987.5:n.64T>C
ENST00000526592.5:c.59T>C	ENSP00000432005.1:p.Leu20Ser
ENST00000528021.5:c.59T>C	ENSP00000432465.1:p.Leu20Ser
ENST00000528048.5:c.59T>C	ENSP00000436217.1:p.Leu20Ser
ENST00000528182.5:c.59T>C	ENSP00000435475.1:p.Leu20Ser
ENST00000530923.5:c.49T>C
ENST00000531744.5:c.59T>C	ENSP00000456957.1:p.Leu20Ser
ENST00000532699.1:c.59T>C	ENSP00000456434.1:p.Leu20Ser
ENST00000614349.4:c.59T>C	ENSP00000480666.1:p.Leu20Ser
NM_001276503.1:c.59T>C	NP_001263432.1:p.Leu20Ser
NM_001276504.1:c.52+904T>C	NP_001263433.1:n.52+904T>C
NM_001276506.1:c.59T>C	NP_001263435.1:p.Leu20Ser
NM_003002.3:c.59T>C	NP_002993.1:p.Leu20Ser
NR_077060.1:n.143T>C
NM_003002.4:c.59T>C MANE Select	NP_002993.1:p.Leu20Ser
NM_001276503.2:c.59T>C	NP_001263432.1:p.Leu20Ser
NM_001276504.2:c.52+904T>C	NP_001263433.1:n.52+904T>C
NM_001276506.2:c.59T>C	NP_001263435.1:p.Leu20Ser
NR_077060.2:n.94T>C