Canonical Allele Identifier: CA413126696

Gene: SHROOM4

Linked Data

• MyVariant Identifiers: chrX:g.50378594T>A (hg19) ; chrX:g.50635594T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50635594T>A , CM000685.2:g.50635594T>A	GRCh38
NC_000023.10:g.50378594T>A , CM000685.1:g.50378594T>A	GRCh37
NC_000023.9:g.50395334T>A	NCBI36
NG_011882.1:g.183451A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376020.9:c.479A>T MANE Select	ENSP00000365188.2:p.Glu160Val
ENST00000376020.8:c.479A>T	ENSP00000365188.2:p.Glu160Val
ENST00000289292.11:c.479A>T	ENSP00000289292.7:p.Glu160Val
ENST00000376020.6:c.479A>T	ENSP00000365188.2:p.Glu160Val
ENST00000460112.3:c.131A>T	ENSP00000421450.1:p.Glu44Val
NM_020717.3:c.479A>T	NP_065768.2:p.Glu160Val
NR_027121.1:n.505A>T
XM_006724590.2:c.131A>T	XP_006724653.1:p.Glu44Val
XM_006724591.2:c.5A>T	XP_006724654.1:p.Glu2Val
XM_011530800.1:c.344A>T	XP_011529102.1:p.Glu115Val
XM_011530801.1:c.479A>T	XP_011529103.1:p.Glu160Val
XR_938367.1:n.597A>T
XR_938368.1:n.597A>T
XM_017029682.2:c.479A>T	XP_016885171.1:p.Glu160Val
XM_017029683.1:c.344A>T	XP_016885172.1:p.Glu115Val
XM_017029684.1:c.131A>T	XP_016885173.1:p.Glu44Val
XM_017029685.2:c.479A>T	XP_016885174.1:p.Glu160Val
XM_017029686.1:c.5A>T	XP_016885175.1:p.Glu2Val
XM_017029687.2:c.479A>T	XP_016885176.1:p.Glu160Val
XR_001755716.2:n.610A>T
XR_001755717.2:n.610A>T
XR_001755718.2:n.610A>T
NM_020717.5:c.479A>T MANE Select	NP_065768.2:p.Glu160Val
NR_027121.3:n.655A>T
NR_172068.1:n.520A>T
NR_172069.1:n.575A>T
NR_172070.1:n.440A>T