Canonical Allele Identifier: CA1397872156
Gene: CASR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122284303G= , CM000665.2:g.122284303G= GRCh38
NC_000003.11:g.122003150G= , CM000665.1:g.122003150G= GRCh37
NC_000003.10:g.123485840G= NCBI36
NG_009058.1:g.105621G=
NG_009058.2:g.105636G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000490131.7:c.2118G= ENSP00000418685.2:p.Leu706=
ENST00000498619.4:c.2379G= ENSP00000420194.1:p.Leu793=
ENST00000638421.1:c.2349G= ENSP00000492190.1:p.Leu783=
ENST00000639785.2:c.2349G= MANE Select ENSP00000491584.2:p.Leu783=
ENST00000490131.5:c.2349G= ENSP00000418685.1:p.Leu783=
ENST00000498619.2:c.2379G= ENSP00000420194.1:p.Leu793=
NM_000388.3:c.2349G= NP_000379.2:p.Leu783=
NM_001178065.1:c.2379G= NP_001171536.1:p.Leu793=
XM_005247836.2:c.2349G= XP_005247893.1:p.Leu783=
XM_005247837.2:c.1866G= XP_005247894.1:p.Leu622=
XM_006713789.2:c.2349G= XP_006713852.1:p.Leu783=
XM_011513237.1:c.2349G= XP_011511539.1:p.Leu783=
XM_011513238.1:c.2349G= XP_011511540.1:p.Leu783=
XM_011513239.1:c.1761G= XP_011511541.1:p.Leu587=
XM_006713789.3:c.2349G= XP_006713852.1:p.Leu783=
XM_017007324.1:c.2349G= XP_016862813.1:p.Leu783=
XM_017007325.1:c.2349G= XP_016862814.1:p.Leu783=
NM_000388.4:c.2349G= MANE Select NP_000379.3:p.Leu783=
NM_001178065.2:c.2379G= NP_001171536.2:p.Leu793=