Canonical Allele Identifier: CA2692397756

Gene: SARDH

Linked Data

• gnomAD v4: 9-133671596-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133671599dup , CM000671.2:g.133671599dup	GRCh38
NC_000009.11:g.136536721dup , CM000671.1:g.136536721dup	GRCh37
NC_000009.10:g.135526542dup	NCBI36
NG_008987.1:g.73359dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439388.6:c.2264dup MANE Select	ENSP00000403084.1:p.Ala756CysfsTer19
ENST00000371868.5:c.548dup	ENSP00000360934.1:p.Ala184CysfsTer19
ENST00000371872.8:c.2264dup	ENSP00000360938.4:p.Ala756CysfsTer19
ENST00000422262.6:c.1424dup	ENSP00000415537.3:p.Ala476CysfsTer19
ENST00000439388.5:c.2264dup	ENSP00000403084.1:p.Ala756CysfsTer19
NM_001134707.1:c.2264dup	NP_001128179.1:p.Ala756CysfsTer19
NM_007101.3:c.2264dup	NP_009032.2:p.Ala756CysfsTer19
XM_006716990.2:c.2264dup	XP_006717053.1:p.Ala756CysfsTer19
XM_011518333.1:c.2264dup	XP_011516635.1:p.Ala756CysfsTer19
XR_929726.1:n.2431dup
XR_929727.1:n.2431dup
XR_929728.1:n.2431dup
XM_017014367.1:c.2264dup	XP_016869856.1:p.Ala756CysfsTer19
XM_017014368.1:c.2264dup	XP_016869857.1:p.Ala756CysfsTer19
XR_001746213.1:n.2560dup
XR_001746214.1:n.3743dup
XR_001746215.1:n.2562dup
XR_001746216.1:n.2560dup
XR_001746217.1:n.2560dup
XR_001746218.1:n.2412dup
XR_002956762.1:n.2516dup
XR_929726.2:n.2431dup
NM_001134707.2:c.2264dup MANE Select	NP_001128179.1:p.Ala756CysfsTer19
NM_007101.4:c.2264dup	NP_009032.2:p.Ala756CysfsTer19