Canonical Allele Identifier: CA2569462
Gene: CASR HGNC NCBI

Linked Data

ClinVar Variation Id: 532621
ClinVar RCV Id: RCV002232614
dbSNP Id: rs778201006
COSMIC: COSM202932

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122257260C>A , CM000665.2:g.122257260C>A GRCh38
NC_000003.11:g.121976107C>A , CM000665.1:g.121976107C>A GRCh37
NC_000003.10:g.123458797C>A NCBI36
NG_009058.1:g.78578C>A
NG_009058.2:g.78593C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000490131.7:c.365C>A ENSP00000418685.2:p.Ser122Tyr
ENST00000498619.4:c.365C>A ENSP00000420194.1:p.Ser122Tyr
ENST00000638296.1:n.284C>A
ENST00000638421.1:c.365C>A ENSP00000492190.1:p.Ser122Tyr
ENST00000639785.2:c.365C>A MANE Select ENSP00000491584.2:p.Ser122Tyr
ENST00000490131.5:c.365C>A ENSP00000418685.1:p.Ser122Tyr
ENST00000490186.1:n.224C>A
ENST00000498619.2:c.365C>A ENSP00000420194.1:p.Ser122Tyr
NM_000388.3:c.365C>A NP_000379.2:p.Ser122Tyr
NM_001178065.1:c.365C>A NP_001171536.1:p.Ser122Tyr
XM_005247836.2:c.365C>A XP_005247893.1:p.Ser122Tyr
XM_005247837.2:c.9+2886C>A XP_005247894.1:n.9+2886C>A
XM_006713789.2:c.365C>A XP_006713852.1:p.Ser122Tyr
XM_011513237.1:c.365C>A XP_011511539.1:p.Ser122Tyr
XM_011513238.1:c.365C>A XP_011511540.1:p.Ser122Tyr
XM_006713789.3:c.365C>A XP_006713852.1:p.Ser122Tyr
XM_017007324.1:c.365C>A XP_016862813.1:p.Ser122Tyr
XM_017007325.1:c.365C>A XP_016862814.1:p.Ser122Tyr
NM_000388.4:c.365C>A MANE Select NP_000379.3:p.Ser122Tyr
NM_001178065.2:c.365C>A NP_001171536.2:p.Ser122Tyr