Canonical Allele Identifier: CA382617440
Gene: SDHD HGNC NCBI

Linked Data

ClinVar Variation Id: 480808
ClinVar RCV Id: RCV002231524
dbSNP Id: rs1555187083

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112089012G>T , CM000673.2:g.112089012G>T GRCh38
NC_000011.9:g.111959736G>T , CM000673.1:g.111959736G>T GRCh37
NC_000011.8:g.111464946G>T NCBI36
NG_012337.2:g.7166G>T
NG_033145.1:g.2787C>A
NG_012337.3:g.7166G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000530923.6:c.314+1G>T ENSP00000432946.2:n.314+1G>T
ENST00000534010.2:c.314+1G>T ENSP00000433202.2:n.314+1G>T
ENST00000375549.8:c.314+1G>T MANE Select ENSP00000364699.3:n.314+1G>T
ENST00000528021.6:c.314+1G>T ENSP00000432465.1:n.314+1G>T
ENST00000640554.1:c.*387G>T ENSP00000491141.1:n.*387G>T
ENST00000375549.7:c.314+1G>T ENSP00000364699.3:n.314+1G>T
ENST00000525291.5:c.197+1G>T ENSP00000436669.1:n.197+1G>T
ENST00000525987.5:n.319+1G>T
ENST00000526592.5:c.314+1G>T ENSP00000432005.1:n.314+1G>T
ENST00000528021.5:c.314+1G>T ENSP00000432465.1:n.314+1G>T
ENST00000528048.5:c.169+1039G>T ENSP00000436217.1:n.169+1039G>T
ENST00000528182.5:c.307+8G>T ENSP00000435475.1:n.307+8G>T
ENST00000530923.5:c.304+1G>T
ENST00000531744.5:c.314+1G>T ENSP00000456957.1:n.314+1G>T
ENST00000532699.1:c.314+1G>T ENSP00000456434.1:n.314+1G>T
ENST00000534010.1:c.145+1G>T
ENST00000614349.4:c.314+1G>T ENSP00000480666.1:n.314+1G>T
NM_001276503.1:c.169+1039G>T NP_001263432.1:n.169+1039G>T
NM_001276504.1:c.197+1G>T NP_001263433.1:n.197+1G>T
NM_001276506.1:c.314+1G>T NP_001263435.1:n.314+1G>T
NM_003002.3:c.314+1G>T NP_002993.1:n.314+1G>T
NR_077060.1:n.398+1G>T
NM_003002.4:c.314+1G>T MANE Select NP_002993.1:n.314+1G>T
NM_001276503.2:c.169+1039G>T NP_001263432.1:n.169+1039G>T
NM_001276504.2:c.197+1G>T NP_001263433.1:n.197+1G>T
NM_001276506.2:c.314+1G>T NP_001263435.1:n.314+1G>T
NR_077060.2:n.349+1G>T