Canonical Allele Identifier: CA375426177

Gene: SARDH

Linked Data

• dbSNP Id: rs1237395150
• gnomAD v4: 9-133729808-A-T
• MyVariant Identifiers: chr9:g.136594930A>T (hg19) ; chr9:g.133729808A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133729808A>T , CM000671.2:g.133729808A>T	GRCh38
NC_000009.11:g.136594930A>T , CM000671.1:g.136594930A>T	GRCh37
NC_000009.10:g.135584751A>T	NCBI36
NG_008987.1:g.15148T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439388.6:c.872T>A MANE Select	ENSP00000403084.1:p.Met291Lys
ENST00000298628.6:c.872T>A	ENSP00000298628.5:p.Met291Lys
ENST00000371867.5:c.605T>A	ENSP00000360933.1:p.Met202Lys
ENST00000371872.8:c.872T>A	ENSP00000360938.4:p.Met291Lys
ENST00000422262.6:c.32T>A	ENSP00000415537.3:p.Met11Lys
ENST00000427237.6:c.872T>A	ENSP00000394210.2:p.Met291Lys
ENST00000439388.5:c.872T>A	ENSP00000403084.1:p.Met291Lys
ENST00000616662.4:c.872T>A	ENSP00000484683.1:p.Met291Lys
NM_001134707.1:c.872T>A	NP_001128179.1:p.Met291Lys
NM_007101.3:c.872T>A	NP_009032.2:p.Met291Lys
XM_006716990.2:c.872T>A	XP_006717053.1:p.Met291Lys
XM_011518333.1:c.872T>A	XP_011516635.1:p.Met291Lys
XR_929726.1:n.1039T>A
XR_929727.1:n.1039T>A
XR_929728.1:n.1039T>A
XM_017014367.1:c.872T>A	XP_016869856.1:p.Met291Lys
XM_017014368.1:c.872T>A	XP_016869857.1:p.Met291Lys
XR_001746213.1:n.1168T>A
XR_001746214.1:n.2351T>A
XR_001746215.1:n.1170T>A
XR_001746216.1:n.1168T>A
XR_001746217.1:n.1168T>A
XR_001746218.1:n.1168T>A
XR_929726.2:n.1039T>A
NM_001134707.2:c.872T>A MANE Select	NP_001128179.1:p.Met291Lys
NM_007101.4:c.872T>A	NP_009032.2:p.Met291Lys