Canonical Allele Identifier: CA070965
Gene: SDHD HGNC NCBI

Linked Data

ClinVar Variation Id: 412512
dbSNP Id: rs200255724

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112088966C>A , CM000673.2:g.112088966C>A GRCh38
NC_000011.9:g.111959690C>A , CM000673.1:g.111959690C>A GRCh37
NC_000011.8:g.111464900C>A NCBI36
NG_012337.2:g.7120C>A
NG_033145.1:g.2833G>T
NG_012337.3:g.7120C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000530923.6:c.269C>A ENSP00000432946.2:p.Ala90Glu
ENST00000534010.2:c.269C>A ENSP00000433202.2:p.Ala90Glu
ENST00000375549.8:c.269C>A MANE Select ENSP00000364699.3:p.Ala90Glu
ENST00000528021.6:c.269C>A ENSP00000432465.1:p.Ala90Glu
ENST00000640554.1:c.*341C>A ENSP00000491141.1:n.*341C>A
ENST00000375549.7:c.269C>A ENSP00000364699.3:p.Ala90Glu
ENST00000525291.5:c.152C>A ENSP00000436669.1:p.Ala51Glu
ENST00000525987.5:n.274C>A
ENST00000526592.5:c.269C>A ENSP00000432005.1:p.Ala90Glu
ENST00000528021.5:c.269C>A ENSP00000432465.1:p.Ala90Glu
ENST00000528048.5:c.169+993C>A ENSP00000436217.1:n.169+993C>A
ENST00000528182.5:c.269C>A ENSP00000435475.1:p.Ala90Glu
ENST00000530923.5:c.259C>A
ENST00000531744.5:c.269C>A ENSP00000456957.1:p.Ala90Glu
ENST00000532699.1:c.269C>A ENSP00000456434.1:p.Ala90Glu
ENST00000534010.1:c.100C>A
ENST00000614349.4:c.269C>A ENSP00000480666.1:p.Ala90Glu
NM_001276503.1:c.169+993C>A NP_001263432.1:n.169+993C>A
NM_001276504.1:c.152C>A NP_001263433.1:p.Ala51Glu
NM_001276506.1:c.269C>A NP_001263435.1:p.Ala90Glu
NM_003002.3:c.269C>A NP_002993.1:p.Ala90Glu
NR_077060.1:n.353C>A
NM_003002.4:c.269C>A MANE Select NP_002993.1:p.Ala90Glu
NM_001276503.2:c.169+993C>A NP_001263432.1:n.169+993C>A
NM_001276504.2:c.152C>A NP_001263433.1:p.Ala51Glu
NM_001276506.2:c.269C>A NP_001263435.1:p.Ala90Glu
NR_077060.2:n.304C>A