Canonical Allele Identifier: CA375416555

Gene: SARDH

Linked Data

• dbSNP Id: rs140559739
• gnomAD v2: 9-136570084-G-C
• gnomAD v4: 9-133704962-G-C
• MyVariant Identifiers: chr9:g.136570084G>C (hg19) ; chr9:g.133704962G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133704962G>C , CM000671.2:g.133704962G>C	GRCh38
NC_000009.11:g.136570084G>C , CM000671.1:g.136570084G>C	GRCh37
NC_000009.10:g.135559905G>C	NCBI36
NG_008987.1:g.39994C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000439388.6:c.1540C>G MANE Select	ENSP00000403084.1:p.Arg514Gly
ENST00000371872.8:c.1540C>G	ENSP00000360938.4:p.Arg514Gly
ENST00000422262.6:c.700C>G	ENSP00000415537.3:p.Arg234Gly
ENST00000427237.6:c.1540C>G	ENSP00000394210.2:p.Arg514Gly
ENST00000439388.5:c.1540C>G	ENSP00000403084.1:p.Arg514Gly
ENST00000616662.4:c.*113C>G	ENSP00000484683.1:n.*113C>G
NM_001134707.1:c.1540C>G	NP_001128179.1:p.Arg514Gly
NM_007101.3:c.1540C>G	NP_009032.2:p.Arg514Gly
XM_006716990.2:c.1540C>G	XP_006717053.1:p.Arg514Gly
XM_011518333.1:c.1540C>G	XP_011516635.1:p.Arg514Gly
XR_929726.1:n.1707C>G
XR_929727.1:n.1707C>G
XR_929728.1:n.1707C>G
XM_017014367.1:c.1540C>G	XP_016869856.1:p.Arg514Gly
XM_017014368.1:c.1540C>G	XP_016869857.1:p.Arg514Gly
XR_001746213.1:n.1836C>G
XR_001746214.1:n.3019C>G
XR_001746215.1:n.1838C>G
XR_001746216.1:n.1836C>G
XR_001746217.1:n.1836C>G
XR_001746218.1:n.1836C>G
XR_002956762.1:n.1792C>G
XR_929726.2:n.1707C>G
NM_001134707.2:c.1540C>G MANE Select	NP_001128179.1:p.Arg514Gly
NM_007101.4:c.1540C>G	NP_009032.2:p.Arg514Gly