Canonical Allele Identifier: CA375426050
Gene: SARDH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133729790A>T , CM000671.2:g.133729790A>T GRCh38
NC_000009.11:g.136594912A>T , CM000671.1:g.136594912A>T GRCh37
NC_000009.10:g.135584733A>T NCBI36
NG_008987.1:g.15166T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000439388.6:c.890T>A MANE Select ENSP00000403084.1:p.Val297Asp
ENST00000298628.6:c.890T>A ENSP00000298628.5:p.Val297Asp
ENST00000371867.5:c.623T>A ENSP00000360933.1:p.Val208Asp
ENST00000371872.8:c.890T>A ENSP00000360938.4:p.Val297Asp
ENST00000422262.6:c.50T>A ENSP00000415537.3:p.Val17Asp
ENST00000427237.6:c.890T>A ENSP00000394210.2:p.Val297Asp
ENST00000439388.5:c.890T>A ENSP00000403084.1:p.Val297Asp
ENST00000616662.4:c.890T>A ENSP00000484683.1:p.Val297Asp
NM_001134707.1:c.890T>A NP_001128179.1:p.Val297Asp
NM_007101.3:c.890T>A NP_009032.2:p.Val297Asp
XM_006716990.2:c.890T>A XP_006717053.1:p.Val297Asp
XM_011518333.1:c.890T>A XP_011516635.1:p.Val297Asp
XR_929726.1:n.1057T>A
XR_929727.1:n.1057T>A
XR_929728.1:n.1057T>A
XM_017014367.1:c.890T>A XP_016869856.1:p.Val297Asp
XM_017014368.1:c.890T>A XP_016869857.1:p.Val297Asp
XR_001746213.1:n.1186T>A
XR_001746214.1:n.2369T>A
XR_001746215.1:n.1188T>A
XR_001746216.1:n.1186T>A
XR_001746217.1:n.1186T>A
XR_001746218.1:n.1186T>A
XR_929726.2:n.1057T>A
NM_001134707.2:c.890T>A MANE Select NP_001128179.1:p.Val297Asp
NM_007101.4:c.890T>A NP_009032.2:p.Val297Asp