Canonical Allele Identifier: CA119547
Gene: CASR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8357
ClinVar RCV Id: RCV000008862
dbSNP Id: rs104893719

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122282161G>A , CM000665.2:g.122282161G>A GRCh38
NC_000003.11:g.122001008G>A , CM000665.1:g.122001008G>A GRCh37
NC_000003.10:g.123483698G>A NCBI36
NG_009058.1:g.103479G>A

Transcript Alleles

HGVS Amino-acid change
NM_000388.3:c.1657G>A VV NP_000379.2:p.Gly553Arg
NM_001178065.1:c.1687G>A VV NP_001171536.1:p.Gly563Arg
XM_005247836.2:c.1657G>A XP_005247893.1:p.Gly553Arg
XM_005247837.2:c.1174G>A XP_005247894.1:p.Gly392Arg
XM_006713789.2:c.1657G>A XP_006713852.1:p.Gly553Arg
XM_011513237.1:c.1657G>A XP_011511539.1:p.Gly553Arg
XM_011513238.1:c.1657G>A XP_011511540.1:p.Gly553Arg
XM_011513239.1:c.1069G>A XP_011511541.1:p.Gly357Arg
XM_006713789.3:c.1657G>A
XM_017007324.1:c.1657G>A XP_016862813.1:p.Gly553Arg
XM_017007325.1:c.1657G>A XP_016862814.1:p.Gly553Arg
ENST00000490131.5:c.1657G>A ENSP00000418685.1:p.Gly553Arg
ENST00000498619.2:c.1687G>A ENSP00000420194.1:p.Gly563Arg