Canonical Allele Identifier: CA070925

Gene: SDHD

Linked Data

• dbSNP Id: rs202239399
• ExAC: 11:111959668 G / C
• gnomAD v2: 11-111959668-G-C
• gnomAD v3: 11-112088944-G-C
• gnomAD v4: 11-112088944-G-C
• MyVariant Identifiers: chr11:g.111959668G>C (hg19) ; chr11:g.112088944G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112088944G>C , CM000673.2:g.112088944G>C	GRCh38
NC_000011.9:g.111959668G>C , CM000673.1:g.111959668G>C	GRCh37
NC_000011.8:g.111464878G>C	NCBI36
NG_012337.2:g.7098G>C
NG_033145.1:g.2855C>G
NG_012337.3:g.7098G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.247G>C	ENSP00000432946.2:p.Ala83Pro
ENST00000534010.2:c.247G>C	ENSP00000433202.2:p.Ala83Pro
ENST00000375549.8:c.247G>C MANE Select	ENSP00000364699.3:p.Ala83Pro
ENST00000528021.6:c.247G>C	ENSP00000432465.1:p.Ala83Pro
ENST00000640554.1:c.*319G>C	ENSP00000491141.1:n.*319G>C
ENST00000375549.7:c.247G>C	ENSP00000364699.3:p.Ala83Pro
ENST00000525291.5:c.130G>C	ENSP00000436669.1:p.Ala44Pro
ENST00000525987.5:n.252G>C
ENST00000526592.5:c.247G>C	ENSP00000432005.1:p.Ala83Pro
ENST00000528021.5:c.247G>C	ENSP00000432465.1:p.Ala83Pro
ENST00000528048.5:c.169+971G>C	ENSP00000436217.1:n.169+971G>C
ENST00000528182.5:c.247G>C	ENSP00000435475.1:p.Ala83Pro
ENST00000530923.5:c.237G>C
ENST00000531744.5:c.247G>C	ENSP00000456957.1:p.Ala83Pro
ENST00000532699.1:c.247G>C	ENSP00000456434.1:p.Ala83Pro
ENST00000534010.1:c.78G>C
ENST00000614349.4:c.247G>C	ENSP00000480666.1:p.Ala83Pro
NM_001276503.1:c.169+971G>C	NP_001263432.1:n.169+971G>C
NM_001276504.1:c.130G>C	NP_001263433.1:p.Ala44Pro
NM_001276506.1:c.247G>C	NP_001263435.1:p.Ala83Pro
NM_003002.3:c.247G>C	NP_002993.1:p.Ala83Pro
NR_077060.1:n.331G>C
NM_003002.4:c.247G>C MANE Select	NP_002993.1:p.Ala83Pro
NM_001276503.2:c.169+971G>C	NP_001263432.1:n.169+971G>C
NM_001276504.2:c.130G>C	NP_001263433.1:p.Ala44Pro
NM_001276506.2:c.247G>C	NP_001263435.1:p.Ala83Pro
NR_077060.2:n.282G>C