Canonical Allele Identifier: CA130310
Gene: SARDH HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.133704962G>A
GRCh37 chr9:g.136570084G>A
gnomAD v2:
9:136570084 G / A
gnomAD v3:
9:133704962 G / A
gnomAD v4:
chr9-133704962-G-A
Joint Max Group AF 0.00010013 (AMR)
Genomes Max Group AF 0.00002258 (AMR)
Exomes Max Group AF 0.00010435 (NFE)
ClinVar RCV:
RCV000032646
ClinVar Variation:
39451
dbSNP:
140559739
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133704962G>A , CM000671.2:g.133704962G>A GRCh38
NC_000009.11:g.136570084G>A , CM000671.1:g.136570084G>A GRCh37
NC_000009.10:g.135559905G>A NCBI36
NG_008987.1:g.39994C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000439388.6:c.1540C>T MANE Select ENSP00000403084.1:p.Arg514Ter
ENST00000371872.8:c.1540C>T ENSP00000360938.4:p.Arg514Ter
ENST00000422262.6:c.700C>T ENSP00000415537.3:p.Arg234Ter
ENST00000427237.6:c.1540C>T ENSP00000394210.2:p.Arg514Ter
ENST00000439388.5:c.1540C>T ENSP00000403084.1:p.Arg514Ter
ENST00000616662.4:c.*113C>T ENSP00000484683.1:n.*113C>T
NM_001134707.1:c.1540C>T NP_001128179.1:p.Arg514Ter
NM_007101.3:c.1540C>T NP_009032.2:p.Arg514Ter
XM_006716990.2:c.1540C>T XP_006717053.1:p.Arg514Ter
XM_011518333.1:c.1540C>T XP_011516635.1:p.Arg514Ter
XR_929726.1:n.1707C>T
XR_929727.1:n.1707C>T
XR_929728.1:n.1707C>T
XM_017014367.1:c.1540C>T XP_016869856.1:p.Arg514Ter
XM_017014368.1:c.1540C>T XP_016869857.1:p.Arg514Ter
XR_001746213.1:n.1836C>T
XR_001746214.1:n.3019C>T
XR_001746215.1:n.1838C>T
XR_001746216.1:n.1836C>T
XR_001746217.1:n.1836C>T
XR_001746218.1:n.1836C>T
XR_002956762.1:n.1792C>T
XR_929726.2:n.1707C>T
NM_001134707.2:c.1540C>T MANE Select NP_001128179.1:p.Arg514Ter
NM_007101.4:c.1540C>T NP_009032.2:p.Arg514Ter
Search 100 bp 5'
Search 100 bp 3'