Canonical Allele Identifier: CA16617814
Gene: CASR HGNC NCBI

Linked Data

ClinVar Variation Id: 419616
ClinVar RCV Id: RCV000482781
dbSNP Id: rs1064793992
MyVariant Identifiers: chr3:g.121980459C>T (hg19) chr3:g.122261612C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122261612C>T , CM000665.2:g.122261612C>T GRCh38
NC_000003.11:g.121980459C>T , CM000665.1:g.121980459C>T GRCh37
NC_000003.10:g.123463149C>T NCBI36
NG_009058.1:g.82930C>T
NG_009058.2:g.82945C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000490131.7:c.577C>T ENSP00000418685.2:p.Gln193Ter
ENST00000498619.4:c.577C>T ENSP00000420194.1:p.Gln193Ter
ENST00000638421.1:c.577C>T ENSP00000492190.1:p.Gln193Ter
ENST00000639785.2:c.577C>T MANE Select ENSP00000491584.2:p.Gln193Ter
ENST00000490131.5:c.577C>T ENSP00000418685.1:p.Gln193Ter
ENST00000498619.2:c.577C>T ENSP00000420194.1:p.Gln193Ter
NM_000388.3:c.577C>T NP_000379.2:p.Gln193Ter
NM_001178065.1:c.577C>T NP_001171536.1:p.Gln193Ter
XM_005247836.2:c.577C>T XP_005247893.1:p.Gln193Ter
XM_005247837.2:c.94C>T XP_005247894.1:p.Gln32Ter
XM_006713789.2:c.577C>T XP_006713852.1:p.Gln193Ter
XM_011513237.1:c.577C>T XP_011511539.1:p.Gln193Ter
XM_011513238.1:c.577C>T XP_011511540.1:p.Gln193Ter
XM_011513239.1:c.-12C>T XP_011511541.1:n.-12C>T
XM_006713789.3:c.577C>T XP_006713852.1:p.Gln193Ter
XM_017007324.1:c.577C>T XP_016862813.1:p.Gln193Ter
XM_017007325.1:c.577C>T XP_016862814.1:p.Gln193Ter
NM_000388.4:c.577C>T MANE Select NP_000379.3:p.Gln193Ter
NM_001178065.2:c.577C>T NP_001171536.2:p.Gln193Ter
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