Canonical Allele Identifier: CA228556062

Gene: SDHD

Linked Data

• dbSNP Id: rs938181231
• gnomAD v2: 11-111966008-G-C
• gnomAD v3: 11-112095284-G-C
• gnomAD v4: 11-112095284-G-C
• MyVariant Identifiers: chr11:g.111966008G>C (hg19) ; chr11:g.112095284G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112095284G>C , CM000673.2:g.112095284G>C	GRCh38
NC_000011.9:g.111966008G>C , CM000673.1:g.111966008G>C	GRCh37
NC_000011.8:g.111471218G>C	NCBI36
NG_012337.2:g.13438G>C
NG_012337.3:g.13438G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534010.2:c.314+6273G>C	ENSP00000433202.2:n.314+6273G>C
ENST00000375549.8:c.*314G>C MANE Select	ENSP00000364699.3:n.*314G>C
ENST00000528021.6:c.314+6273G>C	ENSP00000432465.1:n.314+6273G>C
ENST00000375549.7:c.*314G>C	ENSP00000364699.3:n.*314G>C
ENST00000525291.5:c.*314G>C	ENSP00000436669.1:n.*314G>C
ENST00000525987.5:n.319+6273G>C
ENST00000528021.5:c.314+6273G>C	ENSP00000432465.1:n.314+6273G>C
ENST00000528048.5:c.*391G>C	ENSP00000436217.1:n.*391G>C
ENST00000531744.5:c.314+6273G>C	ENSP00000456957.1:n.314+6273G>C
ENST00000532699.1:c.314+6273G>C	ENSP00000456434.1:n.314+6273G>C
ENST00000534010.1:c.145+6273G>C
NM_001276503.1:c.*391G>C	NP_001263432.1:n.*391G>C
NM_001276504.1:c.*314G>C	NP_001263433.1:n.*314G>C
NM_001276506.1:c.*492G>C	NP_001263435.1:n.*492G>C
NM_003002.3:c.*314G>C	NP_002993.1:n.*314G>C
NR_077060.1:n.932G>C
NM_003002.4:c.*314G>C MANE Select	NP_002993.1:n.*314G>C
NM_001276503.2:c.*391G>C	NP_001263432.1:n.*391G>C
NM_001276504.2:c.*314G>C	NP_001263433.1:n.*314G>C
NM_001276506.2:c.*492G>C	NP_001263435.1:n.*492G>C
NR_077060.2:n.883G>C