Canonical Allele Identifier: CA5314673

Gene: SARDH

Linked Data

• ClinVar Variation Id: 3157834
• ClinVar RCV Id: RCV004450155
• dbSNP Id: rs147435491
• ExAC: 9:136595221 C / T
• gnomAD v2: 9-136595221-C-T
• gnomAD v3: 9-133730099-C-T
• gnomAD v4: 9-133730099-C-T
• MyVariant Identifiers: chr9:g.136595221C>T (hg19) ; chr9:g.133730099C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133730099C>T , CM000671.2:g.133730099C>T	GRCh38
NC_000009.11:g.136595221C>T , CM000671.1:g.136595221C>T	GRCh37
NC_000009.10:g.135585042C>T	NCBI36
NG_008987.1:g.14857G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439388.6:c.779G>A MANE Select	ENSP00000403084.1:p.Gly260Asp
ENST00000298628.6:c.779G>A	ENSP00000298628.5:p.Gly260Asp
ENST00000371867.5:c.512G>A	ENSP00000360933.1:p.Gly171Asp
ENST00000371872.8:c.779G>A	ENSP00000360938.4:p.Gly260Asp
ENST00000422262.6:c.-62G>A	ENSP00000415537.3:n.-62G>A
ENST00000427237.6:c.779G>A	ENSP00000394210.2:p.Gly260Asp
ENST00000439388.5:c.779G>A	ENSP00000403084.1:p.Gly260Asp
ENST00000616662.4:c.779G>A	ENSP00000484683.1:p.Gly260Asp
NM_001134707.1:c.779G>A	NP_001128179.1:p.Gly260Asp
NM_007101.3:c.779G>A	NP_009032.2:p.Gly260Asp
XM_006716990.2:c.779G>A	XP_006717053.1:p.Gly260Asp
XM_011518333.1:c.779G>A	XP_011516635.1:p.Gly260Asp
XR_929726.1:n.946G>A
XR_929727.1:n.946G>A
XR_929728.1:n.946G>A
XM_017014367.1:c.779G>A	XP_016869856.1:p.Gly260Asp
XM_017014368.1:c.779G>A	XP_016869857.1:p.Gly260Asp
XR_001746213.1:n.1075G>A
XR_001746214.1:n.2258G>A
XR_001746215.1:n.1077G>A
XR_001746216.1:n.1075G>A
XR_001746217.1:n.1075G>A
XR_001746218.1:n.1075G>A
XR_929726.2:n.946G>A
NM_001134707.2:c.779G>A MANE Select	NP_001128179.1:p.Gly260Asp
NM_007101.4:c.779G>A	NP_009032.2:p.Gly260Asp