Canonical Allele Identifier: CA130305
Gene: SARDH HGNC NCBI

Linked Data

ClinVar Variation Id: 39449
ClinVar RCV Id: RCV000032644
dbSNP Id: rs149481147

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133729820G>A , CM000671.2:g.133729820G>A GRCh38
NC_000009.11:g.136594942G>A , CM000671.1:g.136594942G>A GRCh37
NC_000009.10:g.135584763G>A NCBI36
NG_008987.1:g.15136C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000439388.6:c.860C>T MANE Select ENSP00000403084.1:p.Pro287Leu
ENST00000298628.6:c.860C>T ENSP00000298628.5:p.Pro287Leu
ENST00000371867.5:c.593C>T ENSP00000360933.1:p.Pro198Leu
ENST00000371872.8:c.860C>T ENSP00000360938.4:p.Pro287Leu
ENST00000422262.6:c.20C>T ENSP00000415537.3:p.Pro7Leu
ENST00000427237.6:c.860C>T ENSP00000394210.2:p.Pro287Leu
ENST00000439388.5:c.860C>T ENSP00000403084.1:p.Pro287Leu
ENST00000616662.4:c.860C>T ENSP00000484683.1:p.Pro287Leu
NM_001134707.1:c.860C>T NP_001128179.1:p.Pro287Leu
NM_007101.3:c.860C>T NP_009032.2:p.Pro287Leu
XM_006716990.2:c.860C>T XP_006717053.1:p.Pro287Leu
XM_011518333.1:c.860C>T XP_011516635.1:p.Pro287Leu
XR_929726.1:n.1027C>T
XR_929727.1:n.1027C>T
XR_929728.1:n.1027C>T
XM_017014367.1:c.860C>T XP_016869856.1:p.Pro287Leu
XM_017014368.1:c.860C>T XP_016869857.1:p.Pro287Leu
XR_001746213.1:n.1156C>T
XR_001746214.1:n.2339C>T
XR_001746215.1:n.1158C>T
XR_001746216.1:n.1156C>T
XR_001746217.1:n.1156C>T
XR_001746218.1:n.1156C>T
XR_929726.2:n.1027C>T
NM_001134707.2:c.860C>T MANE Select NP_001128179.1:p.Pro287Leu
NM_007101.4:c.860C>T NP_009032.2:p.Pro287Leu