Canonical Allele Identifier: CA375426407

Gene: SARDH

Linked Data

• gnomAD v4: 9-133729841-C-A
• MyVariant Identifiers: chr9:g.136594963C>A (hg19) ; chr9:g.133729841C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133729841C>A , CM000671.2:g.133729841C>A	GRCh38
NC_000009.11:g.136594963C>A , CM000671.1:g.136594963C>A	GRCh37
NC_000009.10:g.135584784C>A	NCBI36
NG_008987.1:g.15115G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439388.6:c.839G>T MANE Select	ENSP00000403084.1:p.Arg280Leu
ENST00000298628.6:c.839G>T	ENSP00000298628.5:p.Arg280Leu
ENST00000371867.5:c.572G>T	ENSP00000360933.1:p.Arg191Leu
ENST00000371872.8:c.839G>T	ENSP00000360938.4:p.Arg280Leu
ENST00000422262.6:c.-2G>T	ENSP00000415537.3:n.-2G>T
ENST00000427237.6:c.839G>T	ENSP00000394210.2:p.Arg280Leu
ENST00000439388.5:c.839G>T	ENSP00000403084.1:p.Arg280Leu
ENST00000616662.4:c.839G>T	ENSP00000484683.1:p.Arg280Leu
NM_001134707.1:c.839G>T	NP_001128179.1:p.Arg280Leu
NM_007101.3:c.839G>T	NP_009032.2:p.Arg280Leu
XM_006716990.2:c.839G>T	XP_006717053.1:p.Arg280Leu
XM_011518333.1:c.839G>T	XP_011516635.1:p.Arg280Leu
XR_929726.1:n.1006G>T
XR_929727.1:n.1006G>T
XR_929728.1:n.1006G>T
XM_017014367.1:c.839G>T	XP_016869856.1:p.Arg280Leu
XM_017014368.1:c.839G>T	XP_016869857.1:p.Arg280Leu
XR_001746213.1:n.1135G>T
XR_001746214.1:n.2318G>T
XR_001746215.1:n.1137G>T
XR_001746216.1:n.1135G>T
XR_001746217.1:n.1135G>T
XR_001746218.1:n.1135G>T
XR_929726.2:n.1006G>T
NM_001134707.2:c.839G>T MANE Select	NP_001128179.1:p.Arg280Leu
NM_007101.4:c.839G>T	NP_009032.2:p.Arg280Leu