Canonical Allele Identifier: CA415186952

Gene: SSR4

Linked Data

• MyVariant Identifiers: chrX:g.153063530A>T (hg19) ; chrX:g.153798075A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153798075A>T , CM000685.2:g.153798075A>T	GRCh38
NC_000023.10:g.153063530A>T , CM000685.1:g.153063530A>T	GRCh37
NC_000023.9:g.152716724A>T	NCBI36
NG_041795.1:g.8901A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370086.8:c.356A>T MANE Select	ENSP00000359103.3:p.Gln119Leu
ENST00000320857.7:c.356A>T	ENSP00000317331.3:p.Gln119Leu
ENST00000370085.3:c.281A>T	ENSP00000359102.3:p.Gln94Leu
ENST00000370086.7:c.356A>T	ENSP00000359103.3:p.Gln119Leu
ENST00000370087.5:c.356A>T	ENSP00000359104.1:p.Gln119Leu
ENST00000447375.1:n.196A>T
ENST00000460616.5:n.2064A>T
ENST00000471880.5:n.559A>T
ENST00000482902.5:n.2183A>T
ENST00000485612.5:n.471A>T
ENST00000486204.5:n.428A>T
NM_001204526.1:c.389A>T	NP_001191455.1:p.Gln130Leu
NM_001204527.1:c.380A>T	NP_001191456.1:p.Gln127Leu
NM_006280.2:c.356A>T	NP_006271.1:p.Gln119Leu
NR_037927.1:n.701A>T
XM_011531186.1:c.356A>T	XP_011529488.1:p.Gln119Leu
XM_011531187.1:c.356A>T	XP_011529489.1:p.Gln119Leu
XM_017029756.1:c.167A>T	XP_016885245.1:p.Gln56Leu
XM_017029757.1:c.167A>T	XP_016885246.1:p.Gln56Leu
XM_024452428.1:c.167A>T	XP_024308196.1:p.Gln56Leu
NM_001204527.2:c.380A>T	NP_001191456.1:p.Gln127Leu
NM_006280.3:c.356A>T MANE Select	NP_006271.1:p.Gln119Leu