Canonical Allele Identifier: CA375426723

Gene: SARDH

Linked Data

• MyVariant Identifiers: chr9:g.136595261A>C (hg19) ; chr9:g.133730139A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133730139A>C , CM000671.2:g.133730139A>C	GRCh38
NC_000009.11:g.136595261A>C , CM000671.1:g.136595261A>C	GRCh37
NC_000009.10:g.135585082A>C	NCBI36
NG_008987.1:g.14817T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439388.6:c.739T>G MANE Select	ENSP00000403084.1:p.Phe247Val
ENST00000298628.6:c.739T>G	ENSP00000298628.5:p.Phe247Val
ENST00000371867.5:c.472T>G	ENSP00000360933.1:p.Phe158Val
ENST00000371872.8:c.739T>G	ENSP00000360938.4:p.Phe247Val
ENST00000422262.6:c.-102T>G	ENSP00000415537.3:n.-102T>G
ENST00000427237.6:c.739T>G	ENSP00000394210.2:p.Phe247Val
ENST00000439388.5:c.739T>G	ENSP00000403084.1:p.Phe247Val
ENST00000616662.4:c.739T>G	ENSP00000484683.1:p.Phe247Val
NM_001134707.1:c.739T>G	NP_001128179.1:p.Phe247Val
NM_007101.3:c.739T>G	NP_009032.2:p.Phe247Val
XM_006716990.2:c.739T>G	XP_006717053.1:p.Phe247Val
XM_011518333.1:c.739T>G	XP_011516635.1:p.Phe247Val
XR_929726.1:n.906T>G
XR_929727.1:n.906T>G
XR_929728.1:n.906T>G
XM_017014367.1:c.739T>G	XP_016869856.1:p.Phe247Val
XM_017014368.1:c.739T>G	XP_016869857.1:p.Phe247Val
XR_001746213.1:n.1035T>G
XR_001746214.1:n.2218T>G
XR_001746215.1:n.1037T>G
XR_001746216.1:n.1035T>G
XR_001746217.1:n.1035T>G
XR_001746218.1:n.1035T>G
XR_929726.2:n.906T>G
NM_001134707.2:c.739T>G MANE Select	NP_001128179.1:p.Phe247Val
NM_007101.4:c.739T>G	NP_009032.2:p.Phe247Val