Canonical Allele Identifier: CA375426488
Gene: SARDH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133729853C>G , CM000671.2:g.133729853C>G GRCh38
NC_000009.11:g.136594975C>G , CM000671.1:g.136594975C>G GRCh37
NC_000009.10:g.135584796C>G NCBI36
NG_008987.1:g.15103G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000439388.6:c.827G>C MANE Select ENSP00000403084.1:p.Ser276Thr
ENST00000298628.6:c.827G>C ENSP00000298628.5:p.Ser276Thr
ENST00000371867.5:c.560G>C ENSP00000360933.1:p.Ser187Thr
ENST00000371872.8:c.827G>C ENSP00000360938.4:p.Ser276Thr
ENST00000422262.6:c.-14G>C ENSP00000415537.3:n.-14G>C
ENST00000427237.6:c.827G>C ENSP00000394210.2:p.Ser276Thr
ENST00000439388.5:c.827G>C ENSP00000403084.1:p.Ser276Thr
ENST00000616662.4:c.827G>C ENSP00000484683.1:p.Ser276Thr
NM_001134707.1:c.827G>C NP_001128179.1:p.Ser276Thr
NM_007101.3:c.827G>C NP_009032.2:p.Ser276Thr
XM_006716990.2:c.827G>C XP_006717053.1:p.Ser276Thr
XM_011518333.1:c.827G>C XP_011516635.1:p.Ser276Thr
XR_929726.1:n.994G>C
XR_929727.1:n.994G>C
XR_929728.1:n.994G>C
XM_017014367.1:c.827G>C XP_016869856.1:p.Ser276Thr
XM_017014368.1:c.827G>C XP_016869857.1:p.Ser276Thr
XR_001746213.1:n.1123G>C
XR_001746214.1:n.2306G>C
XR_001746215.1:n.1125G>C
XR_001746216.1:n.1123G>C
XR_001746217.1:n.1123G>C
XR_001746218.1:n.1123G>C
XR_929726.2:n.994G>C
NM_001134707.2:c.827G>C MANE Select NP_001128179.1:p.Ser276Thr
NM_007101.4:c.827G>C NP_009032.2:p.Ser276Thr