Canonical Allele Identifier: CA658683043
Gene: SDHD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112088888_112088889dup , CM000673.2:g.112088888_112088889dup GRCh38
NC_000011.9:g.111959612_111959613dup , CM000673.1:g.111959612_111959613dup GRCh37
NC_000011.8:g.111464822_111464823dup NCBI36
NG_012337.2:g.7042_7043dup
NG_033145.1:g.2914_2915dup
NG_012337.3:g.7042_7043dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000530923.6:c.191_192dup ENSP00000432946.2:p.His65SerfsTer22
ENST00000534010.2:c.191_192dup ENSP00000433202.2:p.His65SerfsTer22
ENST00000375549.8:c.191_192dup MANE Select ENSP00000364699.3:p.His65SerfsTer22
ENST00000528021.6:c.191_192dup ENSP00000432465.1:p.His65SerfsTer22
ENST00000640554.1:c.*263_*264dup ENSP00000491141.1:n.*263_*264dup
ENST00000375549.7:c.191_192dup ENSP00000364699.3:p.His65SerfsTer22
ENST00000525291.5:c.74_75dup ENSP00000436669.1:p.His26SerfsTer22
ENST00000525987.5:n.196_197dup
ENST00000526592.5:c.191_192dup ENSP00000432005.1:p.His65SerfsTer22
ENST00000528021.5:c.191_192dup ENSP00000432465.1:p.His65SerfsTer22
ENST00000528048.5:c.169+915_169+916dup ENSP00000436217.1:n.169+915_169+916dup
ENST00000528182.5:c.191_192dup ENSP00000435475.1:p.His65SerfsTer22
ENST00000530923.5:c.181_182dup
ENST00000531744.5:c.191_192dup ENSP00000456957.1:p.His65SerfsTer22
ENST00000532699.1:c.191_192dup ENSP00000456434.1:p.His65SerfsTer22
ENST00000534010.1:c.22_23dup
ENST00000614349.4:c.191_192dup ENSP00000480666.1:p.His65SerfsTer22
NM_001276503.1:c.169+915_169+916dup NP_001263432.1:n.169+915_169+916dup
NM_001276504.1:c.74_75dup NP_001263433.1:p.His26SerfsTer22
NM_001276506.1:c.191_192dup NP_001263435.1:p.His65SerfsTer22
NM_003002.3:c.191_192dup NP_002993.1:p.His65SerfsTer22
NR_077060.1:n.275_276dup
NM_003002.4:c.191_192dup MANE Select NP_002993.1:p.His65SerfsTer22
NM_001276503.2:c.169+915_169+916dup NP_001263432.1:n.169+915_169+916dup
NM_001276504.2:c.74_75dup NP_001263433.1:p.His26SerfsTer22
NM_001276506.2:c.191_192dup NP_001263435.1:p.His65SerfsTer22
NR_077060.2:n.226_227dup