Canonical Allele Identifier: CA375428812

Gene: SARDH

Linked Data

• MyVariant Identifiers: chr9:g.136536728A>T (hg19) ; chr9:g.133671606A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133671606A>T , CM000671.2:g.133671606A>T	GRCh38
NC_000009.11:g.136536728A>T , CM000671.1:g.136536728A>T	GRCh37
NC_000009.10:g.135526549A>T	NCBI36
NG_008987.1:g.73350T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439388.6:c.2255T>A MANE Select	ENSP00000403084.1:p.Met752Lys
ENST00000371868.5:c.539T>A	ENSP00000360934.1:p.Met180Lys
ENST00000371872.8:c.2255T>A	ENSP00000360938.4:p.Met752Lys
ENST00000422262.6:c.1415T>A	ENSP00000415537.3:p.Met472Lys
ENST00000439388.5:c.2255T>A	ENSP00000403084.1:p.Met752Lys
NM_001134707.1:c.2255T>A	NP_001128179.1:p.Met752Lys
NM_007101.3:c.2255T>A	NP_009032.2:p.Met752Lys
XM_006716990.2:c.2255T>A	XP_006717053.1:p.Met752Lys
XM_011518333.1:c.2255T>A	XP_011516635.1:p.Met752Lys
XR_929726.1:n.2422T>A
XR_929727.1:n.2422T>A
XR_929728.1:n.2422T>A
XM_017014367.1:c.2255T>A	XP_016869856.1:p.Met752Lys
XM_017014368.1:c.2255T>A	XP_016869857.1:p.Met752Lys
XR_001746213.1:n.2551T>A
XR_001746214.1:n.3734T>A
XR_001746215.1:n.2553T>A
XR_001746216.1:n.2551T>A
XR_001746217.1:n.2551T>A
XR_001746218.1:n.2403T>A
XR_002956762.1:n.2507T>A
XR_929726.2:n.2422T>A
NM_001134707.2:c.2255T>A MANE Select	NP_001128179.1:p.Met752Lys
NM_007101.4:c.2255T>A	NP_009032.2:p.Met752Lys