Canonical Allele Identifier: CA382617018
Community Standard Title: NM_003002.4(SDHD):c.113G>A (p.Arg38Gln)
Gene: SDHD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112087917G>A , CM000673.2:g.112087917G>A GRCh38
NC_000011.9:g.111958641G>A , CM000673.1:g.111958641G>A GRCh37
NC_000011.8:g.111463851G>A NCBI36
NG_012337.2:g.6071G>A
NG_033145.1:g.3882C>T
NG_012337.3:g.6071G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003002.4:c.113G>A MANE Select NP_002993.1:p.Arg38Gln
ENST00000375549.8:c.113G>A MANE Select ENSP00000364699.3:p.Arg38Gln
NM_001276503.1:c.113G>A NP_001263432.1:p.Arg38Gln
NM_001276503.2:c.113G>A NP_001263432.1:p.Arg38Gln
NM_001276504.1:c.53-950G>A NP_001263433.1:n.53-950G>A
NM_001276504.2:c.53-950G>A NP_001263433.1:n.53-950G>A
NM_001276506.1:c.113G>A NP_001263435.1:p.Arg38Gln
NM_001276506.2:c.113G>A NP_001263435.1:p.Arg38Gln
NM_003002.3:c.113G>A NP_002993.1:p.Arg38Gln
NR_077060.1:n.197G>A
NR_077060.2:n.148G>A
ENST00000375549.7:c.113G>A ENSP00000364699.3:p.Arg38Gln
ENST00000525291.5:c.53-950G>A ENSP00000436669.1:n.53-950G>A
ENST00000525987.5:n.118G>A
ENST00000526592.5:c.113G>A ENSP00000432005.1:p.Arg38Gln
ENST00000528021.5:c.113G>A ENSP00000432465.1:p.Arg38Gln
ENST00000528021.6:c.113G>A ENSP00000432465.1:p.Arg38Gln
ENST00000528048.5:c.113G>A ENSP00000436217.1:p.Arg38Gln
ENST00000528182.5:c.113G>A ENSP00000435475.1:p.Arg38Gln
ENST00000530923.5:c.103G>A
ENST00000530923.6:c.113G>A ENSP00000432946.2:p.Arg38Gln
ENST00000531744.5:c.113G>A ENSP00000456957.1:p.Arg38Gln
ENST00000532699.1:c.113G>A ENSP00000456434.1:p.Arg38Gln
ENST00000534010.2:c.113G>A ENSP00000433202.2:p.Arg38Gln
ENST00000614349.4:c.113G>A ENSP00000480666.1:p.Arg38Gln
ENST00000640554.1:c.113G>A ENSP00000491141.1:p.Arg38Gln