Canonical Allele Identifier: CA5314665

Gene: SARDH

Linked Data

• dbSNP Id: rs763291872
• ExAC: 9:136595193 GT / G
• gnomAD v2: 9-136595193-GT-G
• gnomAD v4: 9-133730071-GT-G
• MyVariant Identifiers: chr9:g.136595194del (hg19) ; chr9:g.133730072del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133730073del , CM000671.2:g.133730073del	GRCh38
NC_000009.11:g.136595195del , CM000671.1:g.136595195del	GRCh37
NC_000009.10:g.135585016del	NCBI36
NG_008987.1:g.14884del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439388.6:c.806del MANE Select	ENSP00000403084.1:p.Asn269ThrfsTer?
ENST00000298628.6:c.806del	ENSP00000298628.5:p.Asn269ThrfsTer?
ENST00000371867.5:c.539del	ENSP00000360933.1:p.Asn180ThrfsTer?
ENST00000371872.8:c.806del	ENSP00000360938.4:p.Asn269ThrfsTer?
ENST00000422262.6:c.-35del	ENSP00000415537.3:n.-35del
ENST00000427237.6:c.806del	ENSP00000394210.2:p.Asn269ThrfsTer?
ENST00000439388.5:c.806del	ENSP00000403084.1:p.Asn269ThrfsTer?
ENST00000616662.4:c.806del	ENSP00000484683.1:p.Asn269ThrfsTer?
NM_001134707.1:c.806del	NP_001128179.1:p.Asn269ThrfsTer?
NM_007101.3:c.806del	NP_009032.2:p.Asn269ThrfsTer?
XM_006716990.2:c.806del	XP_006717053.1:p.Asn269ThrfsTer?
XM_011518333.1:c.806del	XP_011516635.1:p.Asn269ThrfsTer?
XR_929726.1:n.973del
XR_929727.1:n.973del
XR_929728.1:n.973del
XM_017014367.1:c.806del	XP_016869856.1:p.Asn269ThrfsTer?
XM_017014368.1:c.806del	XP_016869857.1:p.Asn269ThrfsTer?
XR_001746213.1:n.1102del
XR_001746214.1:n.2285del
XR_001746215.1:n.1104del
XR_001746216.1:n.1102del
XR_001746217.1:n.1102del
XR_001746218.1:n.1102del
XR_929726.2:n.973del
NM_001134707.2:c.806del MANE Select	NP_001128179.1:p.Asn269ThrfsTer?
NM_007101.4:c.806del	NP_009032.2:p.Asn269ThrfsTer?