Canonical Allele Identifier: CA119527
Gene: CASR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8347
ClinVar RCV Id: RCV000008852
dbSNP Id: rs104893710

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122284413C>T , CM000665.2:g.122284413C>T GRCh38
NC_000003.11:g.122003260C>T , CM000665.1:g.122003260C>T GRCh37
NC_000003.10:g.123485950C>T NCBI36
NG_009058.1:g.105731C>T

Transcript Alleles

HGVS Amino-acid change
NM_000388.3:c.2459C>T VV NP_000379.2:p.Ser820Phe
NM_001178065.1:c.2489C>T VV NP_001171536.1:p.Ser830Phe
XM_005247836.2:c.2459C>T XP_005247893.1:p.Ser820Phe
XM_005247837.2:c.1976C>T XP_005247894.1:p.Ser659Phe
XM_006713789.2:c.2459C>T XP_006713852.1:p.Ser820Phe
XM_011513237.1:c.2459C>T XP_011511539.1:p.Ser820Phe
XM_011513238.1:c.2459C>T XP_011511540.1:p.Ser820Phe
XM_011513239.1:c.1871C>T XP_011511541.1:p.Ser624Phe
XM_006713789.3:c.2459C>T
XM_017007324.1:c.2459C>T XP_016862813.1:p.Ser820Phe
XM_017007325.1:c.2459C>T XP_016862814.1:p.Ser820Phe
ENST00000490131.5:c.2459C>T ENSP00000418685.1:p.Ser820Phe
ENST00000498619.2:c.2489C>T ENSP00000420194.1:p.Ser830Phe