Canonical Allele Identifier: CA119495
Gene: CASR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8328
ClinVar RCV Id: RCV000008830
dbSNP Id: rs104893699

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122284272T>G , CM000665.2:g.122284272T>G GRCh38
NC_000003.11:g.122003119T>G , CM000665.1:g.122003119T>G GRCh37
NC_000003.10:g.123485809T>G NCBI36
NG_009058.1:g.105590T>G

Transcript Alleles

HGVS Amino-acid change
NM_000388.3:c.2318T>G VV NP_000379.2:p.Leu773Arg
NM_001178065.1:c.2348T>G VV NP_001171536.1:p.Leu783Arg
XM_005247836.2:c.2318T>G XP_005247893.1:p.Leu773Arg
XM_005247837.2:c.1835T>G XP_005247894.1:p.Leu612Arg
XM_006713789.2:c.2318T>G XP_006713852.1:p.Leu773Arg
XM_011513237.1:c.2318T>G XP_011511539.1:p.Leu773Arg
XM_011513238.1:c.2318T>G XP_011511540.1:p.Leu773Arg
XM_011513239.1:c.1730T>G XP_011511541.1:p.Leu577Arg
XM_006713789.3:c.2318T>G XP_006713852.1:p.Leu773Arg
XM_017007324.1:c.2318T>G XP_016862813.1:p.Leu773Arg
XM_017007325.1:c.2318T>G XP_016862814.1:p.Leu773Arg
ENST00000490131.5:c.2318T>G ENSP00000418685.1:p.Leu773Arg
ENST00000498619.2:c.2348T>G ENSP00000420194.1:p.Leu783Arg