Canonical Allele Identifier: CA415186987
Gene: SSR4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153798089G>C , CM000685.2:g.153798089G>C GRCh38
NC_000023.10:g.153063544G>C , CM000685.1:g.153063544G>C GRCh37
NC_000023.9:g.152716738G>C NCBI36
NG_041795.1:g.8915G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370086.8:c.370G>C MANE Select ENSP00000359103.3:p.Asp124His
ENST00000320857.7:c.370G>C ENSP00000317331.3:p.Asp124His
ENST00000370085.3:c.295G>C ENSP00000359102.3:p.Asp99His
ENST00000370086.7:c.370G>C ENSP00000359103.3:p.Asp124His
ENST00000370087.5:c.370G>C ENSP00000359104.1:p.Asp124His
ENST00000447375.1:n.210G>C
ENST00000460616.5:n.2078G>C
ENST00000471880.5:n.573G>C
ENST00000482902.5:n.2197G>C
ENST00000485612.5:n.485G>C
ENST00000486204.5:n.442G>C
NM_001204526.1:c.403G>C NP_001191455.1:p.Asp135His
NM_001204527.1:c.394G>C NP_001191456.1:p.Asp132His
NM_006280.2:c.370G>C NP_006271.1:p.Asp124His
NR_037927.1:n.715G>C
XM_011531186.1:c.370G>C XP_011529488.1:p.Asp124His
XM_011531187.1:c.370G>C XP_011529489.1:p.Asp124His
XM_017029756.1:c.181G>C XP_016885245.1:p.Asp61His
XM_017029757.1:c.181G>C XP_016885246.1:p.Asp61His
XM_024452428.1:c.181G>C XP_024308196.1:p.Asp61His
NM_001204527.2:c.394G>C NP_001191456.1:p.Asp132His
NM_006280.3:c.370G>C MANE Select NP_006271.1:p.Asp124His