Canonical Allele Identifier: CA213569
Gene: CASR HGNC NCBI

Linked Data

ClinVar Variation Id: 35781
ClinVar RCV Id: RCV000029433
dbSNP Id: rs193922426
MyVariant Identifiers: chr3:g.122001036G>C (hg19) chr3:g.122282189G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122282189G>C , CM000665.2:g.122282189G>C GRCh38
NC_000003.11:g.122001036G>C , CM000665.1:g.122001036G>C GRCh37
NC_000003.10:g.123483726G>C NCBI36
NG_009058.1:g.103507G>C
NG_009058.2:g.103522G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000490131.7:c.1454G>C ENSP00000418685.2:p.Cys485Ser
ENST00000498619.4:c.1715G>C ENSP00000420194.1:p.Cys572Ser
ENST00000638421.1:c.1685G>C ENSP00000492190.1:p.Cys562Ser
ENST00000639785.2:c.1685G>C MANE Select ENSP00000491584.2:p.Cys562Ser
ENST00000490131.5:c.1685G>C ENSP00000418685.1:p.Cys562Ser
ENST00000498619.2:c.1715G>C ENSP00000420194.1:p.Cys572Ser
NM_000388.3:c.1685G>C NP_000379.2:p.Cys562Ser
NM_001178065.1:c.1715G>C NP_001171536.1:p.Cys572Ser
XM_005247836.2:c.1685G>C XP_005247893.1:p.Cys562Ser
XM_005247837.2:c.1202G>C XP_005247894.1:p.Cys401Ser
XM_006713789.2:c.1685G>C XP_006713852.1:p.Cys562Ser
XM_011513237.1:c.1685G>C XP_011511539.1:p.Cys562Ser
XM_011513238.1:c.1685G>C XP_011511540.1:p.Cys562Ser
XM_011513239.1:c.1097G>C XP_011511541.1:p.Cys366Ser
XM_006713789.3:c.1685G>C XP_006713852.1:p.Cys562Ser
XM_017007324.1:c.1685G>C XP_016862813.1:p.Cys562Ser
XM_017007325.1:c.1685G>C XP_016862814.1:p.Cys562Ser
NM_000388.4:c.1685G>C MANE Select NP_000379.3:p.Cys562Ser
NM_001178065.2:c.1715G>C NP_001171536.2:p.Cys572Ser
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