Canonical Allele Identifier: CA375426674
Gene: SARDH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133730111T>A , CM000671.2:g.133730111T>A GRCh38
NC_000009.11:g.136595233T>A , CM000671.1:g.136595233T>A GRCh37
NC_000009.10:g.135585054T>A NCBI36
NG_008987.1:g.14845A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000439388.6:c.767A>T MANE Select ENSP00000403084.1:p.Glu256Val
ENST00000298628.6:c.767A>T ENSP00000298628.5:p.Glu256Val
ENST00000371867.5:c.500A>T ENSP00000360933.1:p.Glu167Val
ENST00000371872.8:c.767A>T ENSP00000360938.4:p.Glu256Val
ENST00000422262.6:c.-74A>T ENSP00000415537.3:n.-74A>T
ENST00000427237.6:c.767A>T ENSP00000394210.2:p.Glu256Val
ENST00000439388.5:c.767A>T ENSP00000403084.1:p.Glu256Val
ENST00000616662.4:c.767A>T ENSP00000484683.1:p.Glu256Val
NM_001134707.1:c.767A>T NP_001128179.1:p.Glu256Val
NM_007101.3:c.767A>T NP_009032.2:p.Glu256Val
XM_006716990.2:c.767A>T XP_006717053.1:p.Glu256Val
XM_011518333.1:c.767A>T XP_011516635.1:p.Glu256Val
XR_929726.1:n.934A>T
XR_929727.1:n.934A>T
XR_929728.1:n.934A>T
XM_017014367.1:c.767A>T XP_016869856.1:p.Glu256Val
XM_017014368.1:c.767A>T XP_016869857.1:p.Glu256Val
XR_001746213.1:n.1063A>T
XR_001746214.1:n.2246A>T
XR_001746215.1:n.1065A>T
XR_001746216.1:n.1063A>T
XR_001746217.1:n.1063A>T
XR_001746218.1:n.1063A>T
XR_929726.2:n.934A>T
NM_001134707.2:c.767A>T MANE Select NP_001128179.1:p.Glu256Val
NM_007101.4:c.767A>T NP_009032.2:p.Glu256Val