Canonical Allele Identifier: CA375425874
Gene: SARDH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133729765C>G , CM000671.2:g.133729765C>G GRCh38
NC_000009.11:g.136594887C>G , CM000671.1:g.136594887C>G GRCh37
NC_000009.10:g.135584708C>G NCBI36
NG_008987.1:g.15191G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000439388.6:c.915G>C MANE Select ENSP00000403084.1:p.Gln305His
ENST00000298628.6:c.915G>C ENSP00000298628.5:p.Gln305His
ENST00000371867.5:c.648G>C ENSP00000360933.1:p.Gln216His
ENST00000371872.8:c.915G>C ENSP00000360938.4:p.Gln305His
ENST00000422262.6:c.75G>C ENSP00000415537.3:p.Gln25His
ENST00000427237.6:c.915G>C ENSP00000394210.2:p.Gln305His
ENST00000439388.5:c.915G>C ENSP00000403084.1:p.Gln305His
ENST00000616662.4:c.915G>C ENSP00000484683.1:p.Gln305His
NM_001134707.1:c.915G>C NP_001128179.1:p.Gln305His
NM_007101.3:c.915G>C NP_009032.2:p.Gln305His
XM_006716990.2:c.915G>C XP_006717053.1:p.Gln305His
XM_011518333.1:c.915G>C XP_011516635.1:p.Gln305His
XR_929726.1:n.1082G>C
XR_929727.1:n.1082G>C
XR_929728.1:n.1082G>C
XM_017014367.1:c.915G>C XP_016869856.1:p.Gln305His
XM_017014368.1:c.915G>C XP_016869857.1:p.Gln305His
XR_001746213.1:n.1211G>C
XR_001746214.1:n.2394G>C
XR_001746215.1:n.1213G>C
XR_001746216.1:n.1211G>C
XR_001746217.1:n.1211G>C
XR_001746218.1:n.1211G>C
XR_929726.2:n.1082G>C
NM_001134707.2:c.915G>C MANE Select NP_001128179.1:p.Gln305His
NM_007101.4:c.915G>C NP_009032.2:p.Gln305His