Canonical Allele Identifier: CA375426637

Gene: SARDH

Linked Data

• dbSNP Id: rs1832623228
• MyVariant Identifiers: chr9:g.136595215A>G (hg19) ; chr9:g.133730093A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133730093A>G , CM000671.2:g.133730093A>G	GRCh38
NC_000009.11:g.136595215A>G , CM000671.1:g.136595215A>G	GRCh37
NC_000009.10:g.135585036A>G	NCBI36
NG_008987.1:g.14863T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439388.6:c.785T>C MANE Select	ENSP00000403084.1:p.Ile262Thr
ENST00000298628.6:c.785T>C	ENSP00000298628.5:p.Ile262Thr
ENST00000371867.5:c.518T>C	ENSP00000360933.1:p.Ile173Thr
ENST00000371872.8:c.785T>C	ENSP00000360938.4:p.Ile262Thr
ENST00000422262.6:c.-56T>C	ENSP00000415537.3:n.-56T>C
ENST00000427237.6:c.785T>C	ENSP00000394210.2:p.Ile262Thr
ENST00000439388.5:c.785T>C	ENSP00000403084.1:p.Ile262Thr
ENST00000616662.4:c.785T>C	ENSP00000484683.1:p.Ile262Thr
NM_001134707.1:c.785T>C	NP_001128179.1:p.Ile262Thr
NM_007101.3:c.785T>C	NP_009032.2:p.Ile262Thr
XM_006716990.2:c.785T>C	XP_006717053.1:p.Ile262Thr
XM_011518333.1:c.785T>C	XP_011516635.1:p.Ile262Thr
XR_929726.1:n.952T>C
XR_929727.1:n.952T>C
XR_929728.1:n.952T>C
XM_017014367.1:c.785T>C	XP_016869856.1:p.Ile262Thr
XM_017014368.1:c.785T>C	XP_016869857.1:p.Ile262Thr
XR_001746213.1:n.1081T>C
XR_001746214.1:n.2264T>C
XR_001746215.1:n.1083T>C
XR_001746216.1:n.1081T>C
XR_001746217.1:n.1081T>C
XR_001746218.1:n.1081T>C
XR_929726.2:n.952T>C
NM_001134707.2:c.785T>C MANE Select	NP_001128179.1:p.Ile262Thr
NM_007101.4:c.785T>C	NP_009032.2:p.Ile262Thr