Canonical Allele Identifier: CA415186955

Gene: SSR4

Linked Data

• dbSNP Id: rs2092153570
• gnomAD v4: X-153798076-G-C
• MyVariant Identifiers: chrX:g.153063531G>C (hg19) ; chrX:g.153798076G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153798076G>C , CM000685.2:g.153798076G>C	GRCh38
NC_000023.10:g.153063531G>C , CM000685.1:g.153063531G>C	GRCh37
NC_000023.9:g.152716725G>C	NCBI36
NG_041795.1:g.8902G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370086.8:c.357G>C MANE Select	ENSP00000359103.3:p.Gln119His
ENST00000320857.7:c.357G>C	ENSP00000317331.3:p.Gln119His
ENST00000370085.3:c.282G>C	ENSP00000359102.3:p.Gln94His
ENST00000370086.7:c.357G>C	ENSP00000359103.3:p.Gln119His
ENST00000370087.5:c.357G>C	ENSP00000359104.1:p.Gln119His
ENST00000447375.1:n.197G>C
ENST00000460616.5:n.2065G>C
ENST00000471880.5:n.560G>C
ENST00000482902.5:n.2184G>C
ENST00000485612.5:n.472G>C
ENST00000486204.5:n.429G>C
NM_001204526.1:c.390G>C	NP_001191455.1:p.Gln130His
NM_001204527.1:c.381G>C	NP_001191456.1:p.Gln127His
NM_006280.2:c.357G>C	NP_006271.1:p.Gln119His
NR_037927.1:n.702G>C
XM_011531186.1:c.357G>C	XP_011529488.1:p.Gln119His
XM_011531187.1:c.357G>C	XP_011529489.1:p.Gln119His
XM_017029756.1:c.168G>C	XP_016885245.1:p.Gln56His
XM_017029757.1:c.168G>C	XP_016885246.1:p.Gln56His
XM_024452428.1:c.168G>C	XP_024308196.1:p.Gln56His
NM_001204527.2:c.381G>C	NP_001191456.1:p.Gln127His
NM_006280.3:c.357G>C MANE Select	NP_006271.1:p.Gln119His