Canonical Allele Identifier: CA375428793

Gene: SARDH

Linked Data

• MyVariant Identifiers: chr9:g.136536719C>G (hg19) ; chr9:g.133671597C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133671597C>G , CM000671.2:g.133671597C>G	GRCh38
NC_000009.11:g.136536719C>G , CM000671.1:g.136536719C>G	GRCh37
NC_000009.10:g.135526540C>G	NCBI36
NG_008987.1:g.73359G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439388.6:c.2264G>C MANE Select	ENSP00000403084.1:p.Gly755Ala
ENST00000371868.5:c.548G>C	ENSP00000360934.1:p.Gly183Ala
ENST00000371872.8:c.2264G>C	ENSP00000360938.4:p.Gly755Ala
ENST00000422262.6:c.1424G>C	ENSP00000415537.3:p.Gly475Ala
ENST00000439388.5:c.2264G>C	ENSP00000403084.1:p.Gly755Ala
NM_001134707.1:c.2264G>C	NP_001128179.1:p.Gly755Ala
NM_007101.3:c.2264G>C	NP_009032.2:p.Gly755Ala
XM_006716990.2:c.2264G>C	XP_006717053.1:p.Gly755Ala
XM_011518333.1:c.2264G>C	XP_011516635.1:p.Gly755Ala
XR_929726.1:n.2431G>C
XR_929727.1:n.2431G>C
XR_929728.1:n.2431G>C
XM_017014367.1:c.2264G>C	XP_016869856.1:p.Gly755Ala
XM_017014368.1:c.2264G>C	XP_016869857.1:p.Gly755Ala
XR_001746213.1:n.2560G>C
XR_001746214.1:n.3743G>C
XR_001746215.1:n.2562G>C
XR_001746216.1:n.2560G>C
XR_001746217.1:n.2560G>C
XR_001746218.1:n.2412G>C
XR_002956762.1:n.2516G>C
XR_929726.2:n.2431G>C
NM_001134707.2:c.2264G>C MANE Select	NP_001128179.1:p.Gly755Ala
NM_007101.4:c.2264G>C	NP_009032.2:p.Gly755Ala