Canonical Allele Identifier: CA382619208
Gene: SDHD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112094887G>T , CM000673.2:g.112094887G>T GRCh38
NC_000011.9:g.111965611G>T , CM000673.1:g.111965611G>T GRCh37
NC_000011.8:g.111470821G>T NCBI36
NG_012337.2:g.13041G>T
NG_012337.3:g.13041G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000530923.6:c.*136G>T ENSP00000432946.2:n.*136G>T
ENST00000534010.2:c.314+5876G>T ENSP00000433202.2:n.314+5876G>T
ENST00000375549.8:c.397G>T MANE Select ENSP00000364699.3:p.Ala133Ser
ENST00000528021.6:c.314+5876G>T ENSP00000432465.1:n.314+5876G>T
ENST00000375549.7:c.397G>T ENSP00000364699.3:p.Ala133Ser
ENST00000525291.5:c.280G>T ENSP00000436669.1:p.Ala94Ser
ENST00000525987.5:n.319+5876G>T
ENST00000526592.5:c.*95G>T ENSP00000432005.1:n.*95G>T
ENST00000528021.5:c.314+5876G>T ENSP00000432465.1:n.314+5876G>T
ENST00000528048.5:c.252G>T ENSP00000436217.1:p.Gln84His
ENST00000528182.5:c.390G>T ENSP00000435475.1:p.Gln130His
ENST00000530923.5:c.441G>T
ENST00000531744.5:c.314+5876G>T ENSP00000456957.1:n.314+5876G>T
ENST00000532699.1:c.314+5876G>T ENSP00000456434.1:n.314+5876G>T
ENST00000534010.1:c.145+5876G>T
NM_001276503.1:c.252G>T NP_001263432.1:p.Gln84His
NM_001276504.1:c.280G>T NP_001263433.1:p.Ala94Ser
NM_001276506.1:c.*95G>T NP_001263435.1:n.*95G>T
NM_003002.3:c.397G>T NP_002993.1:p.Ala133Ser
NR_077060.1:n.535G>T
NM_003002.4:c.397G>T MANE Select NP_002993.1:p.Ala133Ser
NM_001276503.2:c.252G>T NP_001263432.1:p.Gln84His
NM_001276504.2:c.280G>T NP_001263433.1:p.Ala94Ser
NM_001276506.2:c.*95G>T NP_001263435.1:n.*95G>T
NR_077060.2:n.486G>T