Canonical Allele Identifier: CA354152524
Gene: CASR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122262107T>A , CM000665.2:g.122262107T>A GRCh38
NC_000003.11:g.121980954T>A , CM000665.1:g.121980954T>A GRCh37
NC_000003.10:g.123463644T>A NCBI36
NG_009058.1:g.83425T>A
NG_009058.2:g.83440T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000490131.7:c.1072T>A ENSP00000418685.2:p.Cys358Ser
ENST00000498619.4:c.1072T>A ENSP00000420194.1:p.Cys358Ser
ENST00000638421.1:c.1072T>A ENSP00000492190.1:p.Cys358Ser
ENST00000639785.2:c.1072T>A MANE Select ENSP00000491584.2:p.Cys358Ser
ENST00000490131.5:c.1072T>A ENSP00000418685.1:p.Cys358Ser
ENST00000498619.2:c.1072T>A ENSP00000420194.1:p.Cys358Ser
NM_000388.3:c.1072T>A NP_000379.2:p.Cys358Ser
NM_001178065.1:c.1072T>A NP_001171536.1:p.Cys358Ser
XM_005247836.2:c.1072T>A XP_005247893.1:p.Cys358Ser
XM_005247837.2:c.589T>A XP_005247894.1:p.Cys197Ser
XM_006713789.2:c.1072T>A XP_006713852.1:p.Cys358Ser
XM_011513237.1:c.1072T>A XP_011511539.1:p.Cys358Ser
XM_011513238.1:c.1072T>A XP_011511540.1:p.Cys358Ser
XM_011513239.1:c.484T>A XP_011511541.1:p.Cys162Ser
XM_006713789.3:c.1072T>A XP_006713852.1:p.Cys358Ser
XM_017007324.1:c.1072T>A XP_016862813.1:p.Cys358Ser
XM_017007325.1:c.1072T>A XP_016862814.1:p.Cys358Ser
NM_000388.4:c.1072T>A MANE Select NP_000379.3:p.Cys358Ser
NM_001178065.2:c.1072T>A NP_001171536.2:p.Cys358Ser