Canonical Allele Identifier: CA519231767

Gene: SSR4

Linked Data

• dbSNP Id: rs1173318780
• gnomAD v3: X-153798063-C-T
• gnomAD v4: X-153798063-C-T
• MyVariant Identifiers: chrX:g.153063518C>T (hg19) ; chrX:g.153798063C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153798063C>T , CM000685.2:g.153798063C>T	GRCh38
NC_000023.10:g.153063518C>T , CM000685.1:g.153063518C>T	GRCh37
NC_000023.9:g.152716712C>T	NCBI36
NG_041795.1:g.8889C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370086.8:c.352-8C>T MANE Select	ENSP00000359103.3:n.352-8C>T
ENST00000320857.7:c.352-8C>T	ENSP00000317331.3:n.352-8C>T
ENST00000370085.3:c.277-8C>T	ENSP00000359102.3:n.277-8C>T
ENST00000370086.7:c.352-8C>T	ENSP00000359103.3:n.352-8C>T
ENST00000370087.5:c.352-8C>T	ENSP00000359104.1:n.352-8C>T
ENST00000447375.1:n.192-8C>T
ENST00000460616.5:n.2060-8C>T
ENST00000471880.5:n.555-8C>T
ENST00000482902.5:n.2179-8C>T
ENST00000485612.5:n.467-8C>T
ENST00000486204.5:n.424-8C>T
NM_001204526.1:c.385-8C>T	NP_001191455.1:n.385-8C>T
NM_001204527.1:c.376-8C>T	NP_001191456.1:n.376-8C>T
NM_006280.2:c.352-8C>T	NP_006271.1:n.352-8C>T
NR_037927.1:n.697-8C>T
XM_011531186.1:c.352-8C>T	XP_011529488.1:n.352-8C>T
XM_011531187.1:c.352-8C>T	XP_011529489.1:n.352-8C>T
XM_017029756.1:c.163-8C>T	XP_016885245.1:n.163-8C>T
XM_017029757.1:c.163-8C>T	XP_016885246.1:n.163-8C>T
XM_024452428.1:c.163-8C>T	XP_024308196.1:n.163-8C>T
NM_001204527.2:c.376-8C>T	NP_001191456.1:n.376-8C>T
NM_006280.3:c.352-8C>T MANE Select	NP_006271.1:n.352-8C>T