Canonical Allele Identifier: CA016688
Gene: SDHD HGNC NCBI

Linked Data

ClinVar Variation Id: 6896
dbSNP Id: rs80338844

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112088939C>T , CM000673.2:g.112088939C>T GRCh38
NC_000011.9:g.111959663C>T , CM000673.1:g.111959663C>T GRCh37
NC_000011.8:g.111464873C>T NCBI36
NG_012337.2:g.7093C>T
NG_033145.1:g.2860G>A
NG_012337.3:g.7093C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000530923.6:c.242C>T ENSP00000432946.2:p.Pro81Leu
ENST00000534010.2:c.242C>T ENSP00000433202.2:p.Pro81Leu
ENST00000375549.8:c.242C>T MANE Select ENSP00000364699.3:p.Pro81Leu
ENST00000528021.6:c.242C>T ENSP00000432465.1:p.Pro81Leu
ENST00000640554.1:c.*314C>T ENSP00000491141.1:n.*314C>T
ENST00000375549.7:c.242C>T ENSP00000364699.3:p.Pro81Leu
ENST00000525291.5:c.125C>T ENSP00000436669.1:p.Pro42Leu
ENST00000525987.5:n.247C>T
ENST00000526592.5:c.242C>T ENSP00000432005.1:p.Pro81Leu
ENST00000528021.5:c.242C>T ENSP00000432465.1:p.Pro81Leu
ENST00000528048.5:c.169+966C>T ENSP00000436217.1:n.169+966C>T
ENST00000528182.5:c.242C>T ENSP00000435475.1:p.Pro81Leu
ENST00000530923.5:c.232C>T
ENST00000531744.5:c.242C>T ENSP00000456957.1:p.Pro81Leu
ENST00000532699.1:c.242C>T ENSP00000456434.1:p.Pro81Leu
ENST00000534010.1:c.73C>T
ENST00000614349.4:c.242C>T ENSP00000480666.1:p.Pro81Leu
NM_001276503.1:c.169+966C>T NP_001263432.1:n.169+966C>T
NM_001276504.1:c.125C>T NP_001263433.1:p.Pro42Leu
NM_001276506.1:c.242C>T NP_001263435.1:p.Pro81Leu
NM_003002.3:c.242C>T NP_002993.1:p.Pro81Leu
NR_077060.1:n.326C>T
NM_003002.4:c.242C>T MANE Select NP_002993.1:p.Pro81Leu
NM_001276503.2:c.169+966C>T NP_001263432.1:n.169+966C>T
NM_001276504.2:c.125C>T NP_001263433.1:p.Pro42Leu
NM_001276506.2:c.242C>T NP_001263435.1:p.Pro81Leu
NR_077060.2:n.277C>T