Canonical Allele Identifier: CA16042214
Gene: SSR4 HGNC NCBI

Linked Data

ClinVar Variation Id: 372145
ClinVar RCV Id: RCV000412518
dbSNP Id: rs1057518735

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153798137G>A , CM000685.2:g.153798137G>A GRCh38
NC_000023.10:g.153063592G>A , CM000685.1:g.153063592G>A GRCh37
NC_000023.9:g.152716786G>A NCBI36
NG_041795.1:g.8963G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370086.8:c.417+1G>A MANE Select ENSP00000359103.3:n.417+1G>A
ENST00000320857.7:c.417+1G>A ENSP00000317331.3:n.417+1G>A
ENST00000370085.3:c.342+1G>A ENSP00000359102.3:n.342+1G>A
ENST00000370086.7:c.417+1G>A ENSP00000359103.3:n.417+1G>A
ENST00000370087.5:c.417+1G>A ENSP00000359104.1:n.417+1G>A
ENST00000447375.1:n.257+1G>A
ENST00000460616.5:n.2126G>A
ENST00000471880.5:n.620+1G>A
ENST00000482902.5:n.2244+1G>A
ENST00000485612.5:n.532+1G>A
ENST00000486204.5:n.489+1G>A
NM_001204526.1:c.450+1G>A NP_001191455.1:n.450+1G>A
NM_001204527.1:c.441+1G>A NP_001191456.1:n.441+1G>A
NM_006280.2:c.417+1G>A NP_006271.1:n.417+1G>A
NR_037927.1:n.762+1G>A
XM_011531186.1:c.417+1G>A XP_011529488.1:n.417+1G>A
XM_011531187.1:c.417+1G>A XP_011529489.1:n.417+1G>A
XM_017029756.1:c.228+1G>A XP_016885245.1:n.228+1G>A
XM_017029757.1:c.228+1G>A XP_016885246.1:n.228+1G>A
XM_024452428.1:c.228+1G>A XP_024308196.1:n.228+1G>A
NM_001204527.2:c.441+1G>A NP_001191456.1:n.441+1G>A
NM_006280.3:c.417+1G>A MANE Select NP_006271.1:n.417+1G>A