Canonical Allele Identifier: CA382618967

Gene: SDHD

Linked Data

• dbSNP Id: rs1185790906
• gnomAD v2: 11-111965574-G-A
• gnomAD v4: 11-112094850-G-A
• MyVariant Identifiers: chr11:g.111965574G>A (hg19) ; chr11:g.112094850G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094850G>A , CM000673.2:g.112094850G>A	GRCh38
NC_000011.9:g.111965574G>A , CM000673.1:g.111965574G>A	GRCh37
NC_000011.8:g.111470784G>A	NCBI36
NG_012337.2:g.13004G>A
NG_012337.3:g.13004G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*99G>A	ENSP00000432946.2:n.*99G>A
ENST00000534010.2:c.314+5839G>A	ENSP00000433202.2:n.314+5839G>A
ENST00000375549.8:c.360G>A MANE Select	ENSP00000364699.3:p.Leu120=
ENST00000528021.6:c.314+5839G>A	ENSP00000432465.1:n.314+5839G>A
ENST00000375549.7:c.360G>A	ENSP00000364699.3:p.Leu120=
ENST00000525291.5:c.243G>A	ENSP00000436669.1:p.Leu81=
ENST00000525987.5:n.319+5839G>A
ENST00000526592.5:c.*58G>A	ENSP00000432005.1:n.*58G>A
ENST00000528021.5:c.314+5839G>A	ENSP00000432465.1:n.314+5839G>A
ENST00000528048.5:c.215G>A	ENSP00000436217.1:p.Cys72Tyr
ENST00000528182.5:c.353G>A	ENSP00000435475.1:p.Cys118Tyr
ENST00000530923.5:c.404G>A
ENST00000531744.5:c.314+5839G>A	ENSP00000456957.1:n.314+5839G>A
ENST00000532699.1:c.314+5839G>A	ENSP00000456434.1:n.314+5839G>A
ENST00000534010.1:c.145+5839G>A
NM_001276503.1:c.215G>A	NP_001263432.1:p.Cys72Tyr
NM_001276504.1:c.243G>A	NP_001263433.1:p.Leu81=
NM_001276506.1:c.*58G>A	NP_001263435.1:n.*58G>A
NM_003002.3:c.360G>A	NP_002993.1:p.Leu120=
NR_077060.1:n.498G>A
NM_003002.4:c.360G>A MANE Select	NP_002993.1:p.Leu120=
NM_001276503.2:c.215G>A	NP_001263432.1:p.Cys72Tyr
NM_001276504.2:c.243G>A	NP_001263433.1:p.Leu81=
NM_001276506.2:c.*58G>A	NP_001263435.1:n.*58G>A
NR_077060.2:n.449G>A