Canonical Allele Identifier: CA5314694

Gene: SARDH

Linked Data

• dbSNP Id: rs768642337
• ExAC: 9:136595305 A / G
• gnomAD v2: 9-136595305-A-G
• gnomAD v4: 9-133730183-A-G
• MyVariant Identifiers: chr9:g.136595305A>G (hg19) ; chr9:g.133730183A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133730183A>G , CM000671.2:g.133730183A>G	GRCh38
NC_000009.11:g.136595305A>G , CM000671.1:g.136595305A>G	GRCh37
NC_000009.10:g.135585126A>G	NCBI36
NG_008987.1:g.14773T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439388.6:c.695T>C MANE Select	ENSP00000403084.1:p.Ile232Thr
ENST00000298628.6:c.695T>C	ENSP00000298628.5:p.Ile232Thr
ENST00000371867.5:c.428T>C	ENSP00000360933.1:p.Ile143Thr
ENST00000371872.8:c.695T>C	ENSP00000360938.4:p.Ile232Thr
ENST00000427237.6:c.695T>C	ENSP00000394210.2:p.Ile232Thr
ENST00000439388.5:c.695T>C	ENSP00000403084.1:p.Ile232Thr
ENST00000616662.4:c.695T>C	ENSP00000484683.1:p.Ile232Thr
NM_001134707.1:c.695T>C	NP_001128179.1:p.Ile232Thr
NM_007101.3:c.695T>C	NP_009032.2:p.Ile232Thr
XM_006716990.2:c.695T>C	XP_006717053.1:p.Ile232Thr
XM_011518333.1:c.695T>C	XP_011516635.1:p.Ile232Thr
XR_929726.1:n.862T>C
XR_929727.1:n.862T>C
XR_929728.1:n.862T>C
XM_017014367.1:c.695T>C	XP_016869856.1:p.Ile232Thr
XM_017014368.1:c.695T>C	XP_016869857.1:p.Ile232Thr
XR_001746213.1:n.991T>C
XR_001746214.1:n.2174T>C
XR_001746215.1:n.993T>C
XR_001746216.1:n.991T>C
XR_001746217.1:n.991T>C
XR_001746218.1:n.991T>C
XR_929726.2:n.862T>C
NM_001134707.2:c.695T>C MANE Select	NP_001128179.1:p.Ile232Thr
NM_007101.4:c.695T>C	NP_009032.2:p.Ile232Thr