Canonical Allele Identifier: CA382618968

Gene: SDHD

Linked Data

• MyVariant Identifiers: chr11:g.111965574G>C (hg19) ; chr11:g.112094850G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*99G>C	ENSP00000432946.2:n.*99G>C
ENST00000534010.2:c.314+5839G>C	ENSP00000433202.2:n.314+5839G>C
ENST00000375549.8:c.360G>C MANE Select	ENSP00000364699.3:p.Leu120Phe
ENST00000528021.6:c.314+5839G>C	ENSP00000432465.1:n.314+5839G>C
ENST00000375549.7:c.360G>C	ENSP00000364699.3:p.Leu120Phe
ENST00000525291.5:c.243G>C	ENSP00000436669.1:p.Leu81Phe
ENST00000525987.5:n.319+5839G>C
ENST00000526592.5:c.*58G>C	ENSP00000432005.1:n.*58G>C
ENST00000528021.5:c.314+5839G>C	ENSP00000432465.1:n.314+5839G>C
ENST00000528048.5:c.215G>C	ENSP00000436217.1:p.Cys72Ser
ENST00000528182.5:c.353G>C	ENSP00000435475.1:p.Cys118Ser
ENST00000530923.5:c.404G>C
ENST00000531744.5:c.314+5839G>C	ENSP00000456957.1:n.314+5839G>C
ENST00000532699.1:c.314+5839G>C	ENSP00000456434.1:n.314+5839G>C
ENST00000534010.1:c.145+5839G>C
NM_001276503.1:c.215G>C	NP_001263432.1:p.Cys72Ser
NM_001276504.1:c.243G>C	NP_001263433.1:p.Leu81Phe
NM_001276506.1:c.*58G>C	NP_001263435.1:n.*58G>C
NM_003002.3:c.360G>C	NP_002993.1:p.Leu120Phe
NR_077060.1:n.498G>C
NM_003002.4:c.360G>C MANE Select	NP_002993.1:p.Leu120Phe
NM_001276503.2:c.215G>C	NP_001263432.1:p.Cys72Ser
NM_001276504.2:c.243G>C	NP_001263433.1:p.Leu81Phe
NM_001276506.2:c.*58G>C	NP_001263435.1:n.*58G>C
NR_077060.2:n.449G>C