Canonical Allele Identifier: CA382616974
Community Standard Title: NM_003002.4(SDHD):c.91A>G (p.Ile31Val)
Gene: SDHD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112087895A>G , CM000673.2:g.112087895A>G GRCh38
NC_000011.9:g.111958619A>G , CM000673.1:g.111958619A>G GRCh37
NC_000011.8:g.111463829A>G NCBI36
NG_012337.2:g.6049A>G
NG_033145.1:g.3904T>C
NG_012337.3:g.6049A>G

Transcript Alleles

HGVS Amino-acid Change
NM_003002.4:c.91A>G MANE Select NP_002993.1:p.Ile31Val
ENST00000375549.8:c.91A>G MANE Select ENSP00000364699.3:p.Ile31Val
NM_001276503.1:c.91A>G NP_001263432.1:p.Ile31Val
NM_001276503.2:c.91A>G NP_001263432.1:p.Ile31Val
NM_001276504.1:c.52+936A>G NP_001263433.1:n.52+936A>G
NM_001276504.2:c.52+936A>G NP_001263433.1:n.52+936A>G
NM_001276506.1:c.91A>G NP_001263435.1:p.Ile31Val
NM_001276506.2:c.91A>G NP_001263435.1:p.Ile31Val
NM_003002.3:c.91A>G NP_002993.1:p.Ile31Val
NR_077060.1:n.175A>G
NR_077060.2:n.126A>G
ENST00000375549.7:c.91A>G ENSP00000364699.3:p.Ile31Val
ENST00000525291.5:c.52+936A>G ENSP00000436669.1:n.52+936A>G
ENST00000525987.5:n.96A>G
ENST00000526592.5:c.91A>G ENSP00000432005.1:p.Ile31Val
ENST00000528021.5:c.91A>G ENSP00000432465.1:p.Ile31Val
ENST00000528021.6:c.91A>G ENSP00000432465.1:p.Ile31Val
ENST00000528048.5:c.91A>G ENSP00000436217.1:p.Ile31Val
ENST00000528182.5:c.91A>G ENSP00000435475.1:p.Ile31Val
ENST00000530923.5:c.81A>G
ENST00000530923.6:c.91A>G ENSP00000432946.2:p.Ile31Val
ENST00000531744.5:c.91A>G ENSP00000456957.1:p.Ile31Val
ENST00000532699.1:c.91A>G ENSP00000456434.1:p.Ile31Val
ENST00000534010.2:c.91A>G ENSP00000433202.2:p.Ile31Val
ENST00000614349.4:c.91A>G ENSP00000480666.1:p.Ile31Val
ENST00000640554.1:c.91A>G ENSP00000491141.1:p.Ile31Val