Canonical Allele Identifier: CA016647
Gene: SDHD HGNC NCBI

Linked Data

ClinVar Variation Id: 21351
dbSNP Id: rs80338846

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112088981T>C , CM000673.2:g.112088981T>C GRCh38
NC_000011.9:g.111959705T>C , CM000673.1:g.111959705T>C GRCh37
NC_000011.8:g.111464915T>C NCBI36
NG_012337.2:g.7135T>C
NG_033145.1:g.2818A>G
NG_012337.3:g.7135T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000530923.6:c.284T>C ENSP00000432946.2:p.Leu95Pro
ENST00000534010.2:c.284T>C ENSP00000433202.2:p.Leu95Pro
ENST00000375549.8:c.284T>C MANE Select ENSP00000364699.3:p.Leu95Pro
ENST00000528021.6:c.284T>C ENSP00000432465.1:p.Leu95Pro
ENST00000640554.1:c.*356T>C ENSP00000491141.1:n.*356T>C
ENST00000375549.7:c.284T>C ENSP00000364699.3:p.Leu95Pro
ENST00000525291.5:c.167T>C ENSP00000436669.1:p.Leu56Pro
ENST00000525987.5:n.289T>C
ENST00000526592.5:c.284T>C ENSP00000432005.1:p.Leu95Pro
ENST00000528021.5:c.284T>C ENSP00000432465.1:p.Leu95Pro
ENST00000528048.5:c.169+1008T>C ENSP00000436217.1:n.169+1008T>C
ENST00000528182.5:c.284T>C ENSP00000435475.1:p.Leu95Pro
ENST00000530923.5:c.274T>C
ENST00000531744.5:c.284T>C ENSP00000456957.1:p.Leu95Pro
ENST00000532699.1:c.284T>C ENSP00000456434.1:p.Leu95Pro
ENST00000534010.1:c.115T>C
ENST00000614349.4:c.284T>C ENSP00000480666.1:p.Leu95Pro
NM_001276503.1:c.169+1008T>C NP_001263432.1:n.169+1008T>C
NM_001276504.1:c.167T>C NP_001263433.1:p.Leu56Pro
NM_001276506.1:c.284T>C NP_001263435.1:p.Leu95Pro
NM_003002.3:c.284T>C NP_002993.1:p.Leu95Pro
NR_077060.1:n.368T>C
NM_003002.4:c.284T>C MANE Select NP_002993.1:p.Leu95Pro
NM_001276503.2:c.169+1008T>C NP_001263432.1:n.169+1008T>C
NM_001276504.2:c.167T>C NP_001263433.1:p.Leu56Pro
NM_001276506.2:c.284T>C NP_001263435.1:p.Leu95Pro
NR_077060.2:n.319T>C