Canonical Allele Identifier: CA5314666

Gene: SARDH

Linked Data

• dbSNP Id: rs767034982
• ExAC: 9:136595199 C / T
• gnomAD v2: 9-136595199-C-T
• gnomAD v4: 9-133730077-C-T
• MyVariant Identifiers: chr9:g.136595199C>T (hg19) ; chr9:g.133730077C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133730077C>T , CM000671.2:g.133730077C>T	GRCh38
NC_000009.11:g.136595199C>T , CM000671.1:g.136595199C>T	GRCh37
NC_000009.10:g.135585020C>T	NCBI36
NG_008987.1:g.14879G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439388.6:c.801G>A MANE Select	ENSP00000403084.1:p.Val267=
ENST00000298628.6:c.801G>A	ENSP00000298628.5:p.Val267=
ENST00000371867.5:c.534G>A	ENSP00000360933.1:p.Val178=
ENST00000371872.8:c.801G>A	ENSP00000360938.4:p.Val267=
ENST00000422262.6:c.-40G>A	ENSP00000415537.3:n.-40G>A
ENST00000427237.6:c.801G>A	ENSP00000394210.2:p.Val267=
ENST00000439388.5:c.801G>A	ENSP00000403084.1:p.Val267=
ENST00000616662.4:c.801G>A	ENSP00000484683.1:p.Val267=
NM_001134707.1:c.801G>A	NP_001128179.1:p.Val267=
NM_007101.3:c.801G>A	NP_009032.2:p.Val267=
XM_006716990.2:c.801G>A	XP_006717053.1:p.Val267=
XM_011518333.1:c.801G>A	XP_011516635.1:p.Val267=
XR_929726.1:n.968G>A
XR_929727.1:n.968G>A
XR_929728.1:n.968G>A
XM_017014367.1:c.801G>A	XP_016869856.1:p.Val267=
XM_017014368.1:c.801G>A	XP_016869857.1:p.Val267=
XR_001746213.1:n.1097G>A
XR_001746214.1:n.2280G>A
XR_001746215.1:n.1099G>A
XR_001746216.1:n.1097G>A
XR_001746217.1:n.1097G>A
XR_001746218.1:n.1097G>A
XR_929726.2:n.968G>A
NM_001134707.2:c.801G>A MANE Select	NP_001128179.1:p.Val267=
NM_007101.4:c.801G>A	NP_009032.2:p.Val267=