Canonical Allele Identifier: CA415186994
Gene: SSR4 HGNC NCBI

Linked Data

dbSNP Id: rs782341138

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153798092A>C , CM000685.2:g.153798092A>C GRCh38
NC_000023.10:g.153063547A>C , CM000685.1:g.153063547A>C GRCh37
NC_000023.9:g.152716741A>C NCBI36
NG_041795.1:g.8918A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370086.8:c.373A>C MANE Select ENSP00000359103.3:p.Ile125Leu
ENST00000320857.7:c.373A>C ENSP00000317331.3:p.Ile125Leu
ENST00000370085.3:c.298A>C ENSP00000359102.3:p.Ile100Leu
ENST00000370086.7:c.373A>C ENSP00000359103.3:p.Ile125Leu
ENST00000370087.5:c.373A>C ENSP00000359104.1:p.Ile125Leu
ENST00000447375.1:n.213A>C
ENST00000460616.5:n.2081A>C
ENST00000471880.5:n.576A>C
ENST00000482902.5:n.2200A>C
ENST00000485612.5:n.488A>C
ENST00000486204.5:n.445A>C
NM_001204526.1:c.406A>C NP_001191455.1:p.Ile136Leu
NM_001204527.1:c.397A>C NP_001191456.1:p.Ile133Leu
NM_006280.2:c.373A>C NP_006271.1:p.Ile125Leu
NR_037927.1:n.718A>C
XM_011531186.1:c.373A>C XP_011529488.1:p.Ile125Leu
XM_011531187.1:c.373A>C XP_011529489.1:p.Ile125Leu
XM_017029756.1:c.184A>C XP_016885245.1:p.Ile62Leu
XM_017029757.1:c.184A>C XP_016885246.1:p.Ile62Leu
XM_024452428.1:c.184A>C XP_024308196.1:p.Ile62Leu
NM_001204527.2:c.397A>C NP_001191456.1:p.Ile133Leu
NM_006280.3:c.373A>C MANE Select NP_006271.1:p.Ile125Leu