Canonical Allele Identifier: CA119489
Gene: CASR HGNC NCBI

Linked Data

ClinVar Variation Id: 8325
ClinVar RCV Id: RCV000008827
dbSNP Id: rs104893696

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122257277T>C , CM000665.2:g.122257277T>C GRCh38
NC_000003.11:g.121976124T>C , CM000665.1:g.121976124T>C GRCh37
NC_000003.10:g.123458814T>C NCBI36
NG_009058.1:g.78595T>C
NG_009058.2:g.78610T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000490131.7:c.382T>C ENSP00000418685.2:p.Phe128Leu
ENST00000498619.4:c.382T>C ENSP00000420194.1:p.Phe128Leu
ENST00000638296.1:n.301T>C
ENST00000638421.1:c.382T>C ENSP00000492190.1:p.Phe128Leu
ENST00000639785.2:c.382T>C MANE Select ENSP00000491584.2:p.Phe128Leu
ENST00000490131.5:c.382T>C ENSP00000418685.1:p.Phe128Leu
ENST00000490186.1:n.241T>C
ENST00000498619.2:c.382T>C ENSP00000420194.1:p.Phe128Leu
NM_000388.3:c.382T>C NP_000379.2:p.Phe128Leu
NM_001178065.1:c.382T>C NP_001171536.1:p.Phe128Leu
XM_005247836.2:c.382T>C XP_005247893.1:p.Phe128Leu
XM_005247837.2:c.9+2903T>C XP_005247894.1:n.9+2903T>C
XM_006713789.2:c.382T>C XP_006713852.1:p.Phe128Leu
XM_011513237.1:c.382T>C XP_011511539.1:p.Phe128Leu
XM_011513238.1:c.382T>C XP_011511540.1:p.Phe128Leu
XM_006713789.3:c.382T>C XP_006713852.1:p.Phe128Leu
XM_017007324.1:c.382T>C XP_016862813.1:p.Phe128Leu
XM_017007325.1:c.382T>C XP_016862814.1:p.Phe128Leu
NM_000388.4:c.382T>C MANE Select NP_000379.3:p.Phe128Leu
NM_001178065.2:c.382T>C NP_001171536.2:p.Phe128Leu