Canonical Allele Identifier: CA516568569

Gene: SHROOM4

Linked Data

• MyVariant Identifiers: chrX:g.50378515A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50635515A>G , CM000685.2:g.50635515A>G	GRCh38
NC_000023.10:g.50378515A>G , CM000685.1:g.50378515A>G	GRCh37
NC_000023.9:g.50395255A>G	NCBI36
NG_011882.1:g.183530T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376020.9:c.558T>C MANE Select	ENSP00000365188.2:p.Arg186=
ENST00000376020.8:c.558T>C	ENSP00000365188.2:p.Arg186=
ENST00000289292.11:c.558T>C	ENSP00000289292.7:p.Arg186=
ENST00000376020.6:c.558T>C	ENSP00000365188.2:p.Arg186=
ENST00000460112.3:c.210T>C	ENSP00000421450.1:p.Arg70=
NM_020717.3:c.558T>C	NP_065768.2:p.Arg186=
NR_027121.1:n.584T>C
XM_006724590.2:c.210T>C	XP_006724653.1:p.Arg70=
XM_006724591.2:c.84T>C	XP_006724654.1:p.Arg28=
XM_011530800.1:c.423T>C	XP_011529102.1:p.Arg141=
XM_011530801.1:c.558T>C	XP_011529103.1:p.Arg186=
XR_938367.1:n.676T>C
XR_938368.1:n.676T>C
XM_017029682.2:c.558T>C	XP_016885171.1:p.Arg186=
XM_017029683.1:c.423T>C	XP_016885172.1:p.Arg141=
XM_017029684.1:c.210T>C	XP_016885173.1:p.Arg70=
XM_017029685.2:c.558T>C	XP_016885174.1:p.Arg186=
XM_017029686.1:c.84T>C	XP_016885175.1:p.Arg28=
XM_017029687.2:c.558T>C	XP_016885176.1:p.Arg186=
XR_001755716.2:n.689T>C
XR_001755717.2:n.689T>C
XR_001755718.2:n.689T>C
NM_020717.5:c.558T>C MANE Select	NP_065768.2:p.Arg186=
NR_027121.3:n.734T>C
NR_172068.1:n.599T>C
NR_172069.1:n.654T>C
NR_172070.1:n.519T>C