Canonical Allele Identifier: CA119533
Gene: CASR HGNC NCBI

Linked Data

ClinVar Variation Id: 8350
ClinVar RCV Id: RCV000008855 RCV000414467 RCV001804717 RCV001851749
dbSNP Id: rs104893712
COSMIC: COSM3121288
MyVariant Identifiers: chr3:g.122002611G>A (hg19) chr3:g.122283764G>A (hg38)
PubMed: PMID:12574188 PMID:14519094 PMID:17039419 PMID:24823460
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122283764G>A , CM000665.2:g.122283764G>A GRCh38
NC_000003.11:g.122002611G>A , CM000665.1:g.122002611G>A GRCh37
NC_000003.10:g.123485301G>A NCBI36
NG_009058.1:g.105082G>A
NG_009058.2:g.105097G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000490131.7:c.1579G>A ENSP00000418685.2:p.Glu527Lys
ENST00000498619.4:c.1840G>A ENSP00000420194.1:p.Glu614Lys
ENST00000638421.1:c.1810G>A ENSP00000492190.1:p.Glu604Lys
ENST00000639785.2:c.1810G>A MANE Select ENSP00000491584.2:p.Glu604Lys
ENST00000490131.5:c.1810G>A ENSP00000418685.1:p.Glu604Lys
ENST00000498619.2:c.1840G>A ENSP00000420194.1:p.Glu614Lys
NM_000388.3:c.1810G>A NP_000379.2:p.Glu604Lys
NM_001178065.1:c.1840G>A NP_001171536.1:p.Glu614Lys
XM_005247836.2:c.1810G>A XP_005247893.1:p.Glu604Lys
XM_005247837.2:c.1327G>A XP_005247894.1:p.Glu443Lys
XM_006713789.2:c.1810G>A XP_006713852.1:p.Glu604Lys
XM_011513237.1:c.1810G>A XP_011511539.1:p.Glu604Lys
XM_011513238.1:c.1810G>A XP_011511540.1:p.Glu604Lys
XM_011513239.1:c.1222G>A XP_011511541.1:p.Glu408Lys
XM_006713789.3:c.1810G>A XP_006713852.1:p.Glu604Lys
XM_017007324.1:c.1810G>A XP_016862813.1:p.Glu604Lys
XM_017007325.1:c.1810G>A XP_016862814.1:p.Glu604Lys
NM_000388.4:c.1810G>A MANE Select NP_000379.3:p.Glu604Lys
NM_001178065.2:c.1840G>A NP_001171536.2:p.Glu614Lys
Search 100 bp 5'
Search 100 bp 3'