Canonical Allele Identifier: CA2692402536

Gene: SARDH

Linked Data

• gnomAD v4: 9-133730169-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133730170del , CM000671.2:g.133730170del	GRCh38
NC_000009.11:g.136595292del , CM000671.1:g.136595292del	GRCh37
NC_000009.10:g.135585113del	NCBI36
NG_008987.1:g.14786del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439388.6:c.708del MANE Select	ENSP00000403084.1:p.Val237Ter
ENST00000298628.6:c.708del	ENSP00000298628.5:p.Val237Ter
ENST00000371867.5:c.441del	ENSP00000360933.1:p.Val148Ter
ENST00000371872.8:c.708del	ENSP00000360938.4:p.Val237Ter
ENST00000427237.6:c.708del	ENSP00000394210.2:p.Val237Ter
ENST00000439388.5:c.708del	ENSP00000403084.1:p.Val237Ter
ENST00000616662.4:c.708del	ENSP00000484683.1:p.Val237Ter
NM_001134707.1:c.708del	NP_001128179.1:p.Val237Ter
NM_007101.3:c.708del	NP_009032.2:p.Val237Ter
XM_006716990.2:c.708del	XP_006717053.1:p.Val237Ter
XM_011518333.1:c.708del	XP_011516635.1:p.Val237Ter
XR_929726.1:n.875del
XR_929727.1:n.875del
XR_929728.1:n.875del
XM_017014367.1:c.708del	XP_016869856.1:p.Val237Ter
XM_017014368.1:c.708del	XP_016869857.1:p.Val237Ter
XR_001746213.1:n.1004del
XR_001746214.1:n.2187del
XR_001746215.1:n.1006del
XR_001746216.1:n.1004del
XR_001746217.1:n.1004del
XR_001746218.1:n.1004del
XR_929726.2:n.875del
NM_001134707.2:c.708del MANE Select	NP_001128179.1:p.Val237Ter
NM_007101.4:c.708del	NP_009032.2:p.Val237Ter