Canonical Allele Identifier: CA382617264
Gene: SDHD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112088921T>G , CM000673.2:g.112088921T>G GRCh38
NC_000011.9:g.111959645T>G , CM000673.1:g.111959645T>G GRCh37
NC_000011.8:g.111464855T>G NCBI36
NG_012337.2:g.7075T>G
NG_033145.1:g.2878A>C
NG_012337.3:g.7075T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000530923.6:c.224T>G ENSP00000432946.2:p.Leu75Trp
ENST00000534010.2:c.224T>G ENSP00000433202.2:p.Leu75Trp
ENST00000375549.8:c.224T>G MANE Select ENSP00000364699.3:p.Leu75Trp
ENST00000528021.6:c.224T>G ENSP00000432465.1:p.Leu75Trp
ENST00000640554.1:c.*296T>G ENSP00000491141.1:n.*296T>G
ENST00000375549.7:c.224T>G ENSP00000364699.3:p.Leu75Trp
ENST00000525291.5:c.107T>G ENSP00000436669.1:p.Leu36Trp
ENST00000525987.5:n.229T>G
ENST00000526592.5:c.224T>G ENSP00000432005.1:p.Leu75Trp
ENST00000528021.5:c.224T>G ENSP00000432465.1:p.Leu75Trp
ENST00000528048.5:c.169+948T>G ENSP00000436217.1:n.169+948T>G
ENST00000528182.5:c.224T>G ENSP00000435475.1:p.Leu75Trp
ENST00000530923.5:c.214T>G
ENST00000531744.5:c.224T>G ENSP00000456957.1:p.Leu75Trp
ENST00000532699.1:c.224T>G ENSP00000456434.1:p.Leu75Trp
ENST00000534010.1:c.55T>G
ENST00000614349.4:c.224T>G ENSP00000480666.1:p.Leu75Trp
NM_001276503.1:c.169+948T>G NP_001263432.1:n.169+948T>G
NM_001276504.1:c.107T>G NP_001263433.1:p.Leu36Trp
NM_001276506.1:c.224T>G NP_001263435.1:p.Leu75Trp
NM_003002.3:c.224T>G NP_002993.1:p.Leu75Trp
NR_077060.1:n.308T>G
NM_003002.4:c.224T>G MANE Select NP_002993.1:p.Leu75Trp
NM_001276503.2:c.169+948T>G NP_001263432.1:n.169+948T>G
NM_001276504.2:c.107T>G NP_001263433.1:p.Leu36Trp
NM_001276506.2:c.224T>G NP_001263435.1:p.Leu75Trp
NR_077060.2:n.259T>G