Canonical Allele Identifier: CA413126989

Gene: SHROOM4

Linked Data

• gnomAD v4: X-50635646-G-A
• MyVariant Identifiers: chrX:g.50378646G>A (hg19) ; chrX:g.50635646G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50635646G>A , CM000685.2:g.50635646G>A	GRCh38
NC_000023.10:g.50378646G>A , CM000685.1:g.50378646G>A	GRCh37
NC_000023.9:g.50395386G>A	NCBI36
NG_011882.1:g.183399C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376020.9:c.427C>T MANE Select	ENSP00000365188.2:p.Pro143Ser
ENST00000376020.8:c.427C>T	ENSP00000365188.2:p.Pro143Ser
ENST00000289292.11:c.427C>T	ENSP00000289292.7:p.Pro143Ser
ENST00000376020.6:c.427C>T	ENSP00000365188.2:p.Pro143Ser
ENST00000460112.3:c.79C>T	ENSP00000421450.1:p.Pro27Ser
NM_020717.3:c.427C>T	NP_065768.2:p.Pro143Ser
NR_027121.1:n.453C>T
XM_006724590.2:c.79C>T	XP_006724653.1:p.Pro27Ser
XM_006724591.2:c.-48C>T	XP_006724654.1:n.-48C>T
XM_011530800.1:c.292C>T	XP_011529102.1:p.Pro98Ser
XM_011530801.1:c.427C>T	XP_011529103.1:p.Pro143Ser
XR_938367.1:n.545C>T
XR_938368.1:n.545C>T
XM_017029682.2:c.427C>T	XP_016885171.1:p.Pro143Ser
XM_017029683.1:c.292C>T	XP_016885172.1:p.Pro98Ser
XM_017029684.1:c.79C>T	XP_016885173.1:p.Pro27Ser
XM_017029685.2:c.427C>T	XP_016885174.1:p.Pro143Ser
XM_017029686.1:c.-48C>T	XP_016885175.1:n.-48C>T
XM_017029687.2:c.427C>T	XP_016885176.1:p.Pro143Ser
XR_001755716.2:n.558C>T
XR_001755717.2:n.558C>T
XR_001755718.2:n.558C>T
NM_020717.5:c.427C>T MANE Select	NP_065768.2:p.Pro143Ser
NR_027121.3:n.603C>T
NR_172068.1:n.468C>T
NR_172069.1:n.523C>T
NR_172070.1:n.388C>T