Canonical Allele Identifier: CA413126486

Gene: SHROOM4

Linked Data

• gnomAD v4: X-50635537-T-C
• MyVariant Identifiers: chrX:g.50378537T>C (hg19) ; chrX:g.50635537T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50635537T>C , CM000685.2:g.50635537T>C	GRCh38
NC_000023.10:g.50378537T>C , CM000685.1:g.50378537T>C	GRCh37
NC_000023.9:g.50395277T>C	NCBI36
NG_011882.1:g.183508A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000376020.9:c.536A>G MANE Select	ENSP00000365188.2:p.Gln179Arg
ENST00000376020.8:c.536A>G	ENSP00000365188.2:p.Gln179Arg
ENST00000289292.11:c.536A>G	ENSP00000289292.7:p.Gln179Arg
ENST00000376020.6:c.536A>G	ENSP00000365188.2:p.Gln179Arg
ENST00000460112.3:c.188A>G	ENSP00000421450.1:p.Gln63Arg
NM_020717.3:c.536A>G	NP_065768.2:p.Gln179Arg
NR_027121.1:n.562A>G
XM_006724590.2:c.188A>G	XP_006724653.1:p.Gln63Arg
XM_006724591.2:c.62A>G	XP_006724654.1:p.Gln21Arg
XM_011530800.1:c.401A>G	XP_011529102.1:p.Gln134Arg
XM_011530801.1:c.536A>G	XP_011529103.1:p.Gln179Arg
XR_938367.1:n.654A>G
XR_938368.1:n.654A>G
XM_017029682.2:c.536A>G	XP_016885171.1:p.Gln179Arg
XM_017029683.1:c.401A>G	XP_016885172.1:p.Gln134Arg
XM_017029684.1:c.188A>G	XP_016885173.1:p.Gln63Arg
XM_017029685.2:c.536A>G	XP_016885174.1:p.Gln179Arg
XM_017029686.1:c.62A>G	XP_016885175.1:p.Gln21Arg
XM_017029687.2:c.536A>G	XP_016885176.1:p.Gln179Arg
XR_001755716.2:n.667A>G
XR_001755717.2:n.667A>G
XR_001755718.2:n.667A>G
NM_020717.5:c.536A>G MANE Select	NP_065768.2:p.Gln179Arg
NR_027121.3:n.712A>G
NR_172068.1:n.577A>G
NR_172069.1:n.632A>G
NR_172070.1:n.497A>G