Canonical Allele Identifier: CA130307
Gene: SARDH HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.133671694G>A
GRCh37 chr9:g.136536816G>A
gnomAD v2:
9:136536816 G / A
gnomAD v3:
9:133671694 G / A
gnomAD v4:
chr9-133671694-G-A
Joint Max Group AF 0.00002579 (AFR)
Genomes Max Group AF 0.00000799 (AFR)
Exomes Max Group AF 0.00002457 (AFR)
ClinVar RCV:
RCV000032645
ClinVar Variation:
39450
dbSNP:
149391396
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133671694G>A , CM000671.2:g.133671694G>A GRCh38
NC_000009.11:g.136536816G>A , CM000671.1:g.136536816G>A GRCh37
NC_000009.10:g.135526637G>A NCBI36
NG_008987.1:g.73262C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000439388.6:c.2167C>T MANE Select ENSP00000403084.1:p.Arg723Ter
ENST00000371868.5:c.451C>T ENSP00000360934.1:p.Arg151Ter
ENST00000371872.8:c.2167C>T ENSP00000360938.4:p.Arg723Ter
ENST00000422262.6:c.1327C>T ENSP00000415537.3:p.Arg443Ter
ENST00000439388.5:c.2167C>T ENSP00000403084.1:p.Arg723Ter
NM_001134707.1:c.2167C>T NP_001128179.1:p.Arg723Ter
NM_007101.3:c.2167C>T NP_009032.2:p.Arg723Ter
XM_006716990.2:c.2167C>T XP_006717053.1:p.Arg723Ter
XM_011518333.1:c.2167C>T XP_011516635.1:p.Arg723Ter
XR_929726.1:n.2334C>T
XR_929727.1:n.2334C>T
XR_929728.1:n.2334C>T
XM_017014367.1:c.2167C>T XP_016869856.1:p.Arg723Ter
XM_017014368.1:c.2167C>T XP_016869857.1:p.Arg723Ter
XR_001746213.1:n.2463C>T
XR_001746214.1:n.3646C>T
XR_001746215.1:n.2465C>T
XR_001746216.1:n.2463C>T
XR_001746217.1:n.2463C>T
XR_001746218.1:n.2315C>T
XR_002956762.1:n.2419C>T
XR_929726.2:n.2334C>T
NM_001134707.2:c.2167C>T MANE Select NP_001128179.1:p.Arg723Ter
NM_007101.4:c.2167C>T NP_009032.2:p.Arg723Ter
Search 100 bp 5'
Search 100 bp 3'