Canonical Allele Identifier: CA382619137
Gene: SDHD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112094877G>A , CM000673.2:g.112094877G>A GRCh38
NC_000011.9:g.111965601G>A , CM000673.1:g.111965601G>A GRCh37
NC_000011.8:g.111470811G>A NCBI36
NG_012337.2:g.13031G>A
NG_012337.3:g.13031G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000530923.6:c.*126G>A ENSP00000432946.2:n.*126G>A
ENST00000534010.2:c.314+5866G>A ENSP00000433202.2:n.314+5866G>A
ENST00000375549.8:c.387G>A MANE Select ENSP00000364699.3:p.Leu129=
ENST00000528021.6:c.314+5866G>A ENSP00000432465.1:n.314+5866G>A
ENST00000375549.7:c.387G>A ENSP00000364699.3:p.Leu129=
ENST00000525291.5:c.270G>A ENSP00000436669.1:p.Leu90=
ENST00000525987.5:n.319+5866G>A
ENST00000526592.5:c.*85G>A ENSP00000432005.1:n.*85G>A
ENST00000528021.5:c.314+5866G>A ENSP00000432465.1:n.314+5866G>A
ENST00000528048.5:c.242G>A ENSP00000436217.1:p.Trp81Ter
ENST00000528182.5:c.380G>A ENSP00000435475.1:p.Trp127Ter
ENST00000530923.5:c.431G>A
ENST00000531744.5:c.314+5866G>A ENSP00000456957.1:n.314+5866G>A
ENST00000532699.1:c.314+5866G>A ENSP00000456434.1:n.314+5866G>A
ENST00000534010.1:c.145+5866G>A
NM_001276503.1:c.242G>A NP_001263432.1:p.Trp81Ter
NM_001276504.1:c.270G>A NP_001263433.1:p.Leu90=
NM_001276506.1:c.*85G>A NP_001263435.1:n.*85G>A
NM_003002.3:c.387G>A NP_002993.1:p.Leu129=
NR_077060.1:n.525G>A
NM_003002.4:c.387G>A MANE Select NP_002993.1:p.Leu129=
NM_001276503.2:c.242G>A NP_001263432.1:p.Trp81Ter
NM_001276504.2:c.270G>A NP_001263433.1:p.Leu90=
NM_001276506.2:c.*85G>A NP_001263435.1:n.*85G>A
NR_077060.2:n.476G>A