Canonical Allele Identifier: CA467630029

Gene: SARDH

Linked Data

• MyVariant Identifiers: chr9:g.136536724G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133671602G>C , CM000671.2:g.133671602G>C	GRCh38
NC_000009.11:g.136536724G>C , CM000671.1:g.136536724G>C	GRCh37
NC_000009.10:g.135526545G>C	NCBI36
NG_008987.1:g.73354C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439388.6:c.2259C>G MANE Select	ENSP00000403084.1:p.Ala753=
ENST00000371868.5:c.543C>G	ENSP00000360934.1:p.Ala181=
ENST00000371872.8:c.2259C>G	ENSP00000360938.4:p.Ala753=
ENST00000422262.6:c.1419C>G	ENSP00000415537.3:p.Ala473=
ENST00000439388.5:c.2259C>G	ENSP00000403084.1:p.Ala753=
NM_001134707.1:c.2259C>G	NP_001128179.1:p.Ala753=
NM_007101.3:c.2259C>G	NP_009032.2:p.Ala753=
XM_006716990.2:c.2259C>G	XP_006717053.1:p.Ala753=
XM_011518333.1:c.2259C>G	XP_011516635.1:p.Ala753=
XR_929726.1:n.2426C>G
XR_929727.1:n.2426C>G
XR_929728.1:n.2426C>G
XM_017014367.1:c.2259C>G	XP_016869856.1:p.Ala753=
XM_017014368.1:c.2259C>G	XP_016869857.1:p.Ala753=
XR_001746213.1:n.2555C>G
XR_001746214.1:n.3738C>G
XR_001746215.1:n.2557C>G
XR_001746216.1:n.2555C>G
XR_001746217.1:n.2555C>G
XR_001746218.1:n.2407C>G
XR_002956762.1:n.2511C>G
XR_929726.2:n.2426C>G
NM_001134707.2:c.2259C>G MANE Select	NP_001128179.1:p.Ala753=
NM_007101.4:c.2259C>G	NP_009032.2:p.Ala753=