Canonical Allele Identifier: CA375428794

Gene: SARDH

Linked Data

• MyVariant Identifiers: chr9:g.136536720C>A (hg19) ; chr9:g.133671598C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133671598C>A , CM000671.2:g.133671598C>A	GRCh38
NC_000009.11:g.136536720C>A , CM000671.1:g.136536720C>A	GRCh37
NC_000009.10:g.135526541C>A	NCBI36
NG_008987.1:g.73358G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439388.6:c.2263G>T MANE Select	ENSP00000403084.1:p.Gly755Cys
ENST00000371868.5:c.547G>T	ENSP00000360934.1:p.Gly183Cys
ENST00000371872.8:c.2263G>T	ENSP00000360938.4:p.Gly755Cys
ENST00000422262.6:c.1423G>T	ENSP00000415537.3:p.Gly475Cys
ENST00000439388.5:c.2263G>T	ENSP00000403084.1:p.Gly755Cys
NM_001134707.1:c.2263G>T	NP_001128179.1:p.Gly755Cys
NM_007101.3:c.2263G>T	NP_009032.2:p.Gly755Cys
XM_006716990.2:c.2263G>T	XP_006717053.1:p.Gly755Cys
XM_011518333.1:c.2263G>T	XP_011516635.1:p.Gly755Cys
XR_929726.1:n.2430G>T
XR_929727.1:n.2430G>T
XR_929728.1:n.2430G>T
XM_017014367.1:c.2263G>T	XP_016869856.1:p.Gly755Cys
XM_017014368.1:c.2263G>T	XP_016869857.1:p.Gly755Cys
XR_001746213.1:n.2559G>T
XR_001746214.1:n.3742G>T
XR_001746215.1:n.2561G>T
XR_001746216.1:n.2559G>T
XR_001746217.1:n.2559G>T
XR_001746218.1:n.2411G>T
XR_002956762.1:n.2515G>T
XR_929726.2:n.2430G>T
NM_001134707.2:c.2263G>T MANE Select	NP_001128179.1:p.Gly755Cys
NM_007101.4:c.2263G>T	NP_009032.2:p.Gly755Cys