Canonical Allele Identifier: CA382617189
Gene: SDHD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112088887C>A , CM000673.2:g.112088887C>A GRCh38
NC_000011.9:g.111959611C>A , CM000673.1:g.111959611C>A GRCh37
NC_000011.8:g.111464821C>A NCBI36
NG_012337.2:g.7041C>A
NG_033145.1:g.2912G>T
NG_012337.3:g.7041C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000530923.6:c.190C>A ENSP00000432946.2:p.Leu64Ile
ENST00000534010.2:c.190C>A ENSP00000433202.2:p.Leu64Ile
ENST00000375549.8:c.190C>A MANE Select ENSP00000364699.3:p.Leu64Ile
ENST00000528021.6:c.190C>A ENSP00000432465.1:p.Leu64Ile
ENST00000640554.1:c.*262C>A ENSP00000491141.1:n.*262C>A
ENST00000375549.7:c.190C>A ENSP00000364699.3:p.Leu64Ile
ENST00000525291.5:c.73C>A ENSP00000436669.1:p.Leu25Ile
ENST00000525987.5:n.195C>A
ENST00000526592.5:c.190C>A ENSP00000432005.1:p.Leu64Ile
ENST00000528021.5:c.190C>A ENSP00000432465.1:p.Leu64Ile
ENST00000528048.5:c.169+914C>A ENSP00000436217.1:n.169+914C>A
ENST00000528182.5:c.190C>A ENSP00000435475.1:p.Leu64Ile
ENST00000530923.5:c.180C>A
ENST00000531744.5:c.190C>A ENSP00000456957.1:p.Leu64Ile
ENST00000532699.1:c.190C>A ENSP00000456434.1:p.Leu64Ile
ENST00000534010.1:c.21C>A
ENST00000614349.4:c.190C>A ENSP00000480666.1:p.Leu64Ile
NM_001276503.1:c.169+914C>A NP_001263432.1:n.169+914C>A
NM_001276504.1:c.73C>A NP_001263433.1:p.Leu25Ile
NM_001276506.1:c.190C>A NP_001263435.1:p.Leu64Ile
NM_003002.3:c.190C>A NP_002993.1:p.Leu64Ile
NR_077060.1:n.274C>A
NM_003002.4:c.190C>A MANE Select NP_002993.1:p.Leu64Ile
NM_001276503.2:c.169+914C>A NP_001263432.1:n.169+914C>A
NM_001276504.2:c.73C>A NP_001263433.1:p.Leu25Ile
NM_001276506.2:c.190C>A NP_001263435.1:p.Leu64Ile
NR_077060.2:n.225C>A