Canonical Allele Identifier: CA200986455

Gene: SARDH

Linked Data

• dbSNP Id: rs375896067
• gnomAD v4: 9-133730111-T-G
• MyVariant Identifiers: chr9:g.136595233T>G (hg19) ; chr9:g.133730111T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133730111T>G , CM000671.2:g.133730111T>G	GRCh38
NC_000009.11:g.136595233T>G , CM000671.1:g.136595233T>G	GRCh37
NC_000009.10:g.135585054T>G	NCBI36
NG_008987.1:g.14845A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439388.6:c.767A>C MANE Select	ENSP00000403084.1:p.Glu256Ala
ENST00000298628.6:c.767A>C	ENSP00000298628.5:p.Glu256Ala
ENST00000371867.5:c.500A>C	ENSP00000360933.1:p.Glu167Ala
ENST00000371872.8:c.767A>C	ENSP00000360938.4:p.Glu256Ala
ENST00000422262.6:c.-74A>C	ENSP00000415537.3:n.-74A>C
ENST00000427237.6:c.767A>C	ENSP00000394210.2:p.Glu256Ala
ENST00000439388.5:c.767A>C	ENSP00000403084.1:p.Glu256Ala
ENST00000616662.4:c.767A>C	ENSP00000484683.1:p.Glu256Ala
NM_001134707.1:c.767A>C	NP_001128179.1:p.Glu256Ala
NM_007101.3:c.767A>C	NP_009032.2:p.Glu256Ala
XM_006716990.2:c.767A>C	XP_006717053.1:p.Glu256Ala
XM_011518333.1:c.767A>C	XP_011516635.1:p.Glu256Ala
XR_929726.1:n.934A>C
XR_929727.1:n.934A>C
XR_929728.1:n.934A>C
XM_017014367.1:c.767A>C	XP_016869856.1:p.Glu256Ala
XM_017014368.1:c.767A>C	XP_016869857.1:p.Glu256Ala
XR_001746213.1:n.1063A>C
XR_001746214.1:n.2246A>C
XR_001746215.1:n.1065A>C
XR_001746216.1:n.1063A>C
XR_001746217.1:n.1063A>C
XR_001746218.1:n.1063A>C
XR_929726.2:n.934A>C
NM_001134707.2:c.767A>C MANE Select	NP_001128179.1:p.Glu256Ala
NM_007101.4:c.767A>C	NP_009032.2:p.Glu256Ala