Canonical Allele Identifier: CA382619007

Gene: SDHD

Linked Data

• dbSNP Id: rs2135277518
• MyVariant Identifiers: chr11:g.111965581G>C (hg19) ; chr11:g.112094857G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094857G>C , CM000673.2:g.112094857G>C	GRCh38
NC_000011.9:g.111965581G>C , CM000673.1:g.111965581G>C	GRCh37
NC_000011.8:g.111470791G>C	NCBI36
NG_012337.2:g.13011G>C
NG_012337.3:g.13011G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000530923.6:c.*106G>C	ENSP00000432946.2:n.*106G>C
ENST00000534010.2:c.314+5846G>C	ENSP00000433202.2:n.314+5846G>C
ENST00000375549.8:c.367G>C MANE Select	ENSP00000364699.3:p.Ala123Pro
ENST00000528021.6:c.314+5846G>C	ENSP00000432465.1:n.314+5846G>C
ENST00000375549.7:c.367G>C	ENSP00000364699.3:p.Ala123Pro
ENST00000525291.5:c.250G>C	ENSP00000436669.1:p.Ala84Pro
ENST00000525987.5:n.319+5846G>C
ENST00000526592.5:c.*65G>C	ENSP00000432005.1:n.*65G>C
ENST00000528021.5:c.314+5846G>C	ENSP00000432465.1:n.314+5846G>C
ENST00000528048.5:c.222G>C	ENSP00000436217.1:p.Lys74Asn
ENST00000528182.5:c.360G>C	ENSP00000435475.1:p.Lys120Asn
ENST00000530923.5:c.411G>C
ENST00000531744.5:c.314+5846G>C	ENSP00000456957.1:n.314+5846G>C
ENST00000532699.1:c.314+5846G>C	ENSP00000456434.1:n.314+5846G>C
ENST00000534010.1:c.145+5846G>C
NM_001276503.1:c.222G>C	NP_001263432.1:p.Lys74Asn
NM_001276504.1:c.250G>C	NP_001263433.1:p.Ala84Pro
NM_001276506.1:c.*65G>C	NP_001263435.1:n.*65G>C
NM_003002.3:c.367G>C	NP_002993.1:p.Ala123Pro
NR_077060.1:n.505G>C
NM_003002.4:c.367G>C MANE Select	NP_002993.1:p.Ala123Pro
NM_001276503.2:c.222G>C	NP_001263432.1:p.Lys74Asn
NM_001276504.2:c.250G>C	NP_001263433.1:p.Ala84Pro
NM_001276506.2:c.*65G>C	NP_001263435.1:n.*65G>C
NR_077060.2:n.456G>C