Canonical Allele Identifier: CA1397872316
Gene: CASR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122284388C= , CM000665.2:g.122284388C= GRCh38
NC_000003.11:g.122003235C= , CM000665.1:g.122003235C= GRCh37
NC_000003.10:g.123485925C= NCBI36
NG_009058.1:g.105706C=
NG_009058.2:g.105721C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000490131.7:c.2203C= ENSP00000418685.2:p.Leu735=
ENST00000498619.4:c.2464C= ENSP00000420194.1:p.Leu822=
ENST00000638421.1:c.2434C= ENSP00000492190.1:p.Leu812=
ENST00000639785.2:c.2434C= MANE Select ENSP00000491584.2:p.Leu812=
ENST00000490131.5:c.2434C= ENSP00000418685.1:p.Leu812=
ENST00000498619.2:c.2464C= ENSP00000420194.1:p.Leu822=
NM_000388.3:c.2434C= NP_000379.2:p.Leu812=
NM_001178065.1:c.2464C= NP_001171536.1:p.Leu822=
XM_005247836.2:c.2434C= XP_005247893.1:p.Leu812=
XM_005247837.2:c.1951C= XP_005247894.1:p.Leu651=
XM_006713789.2:c.2434C= XP_006713852.1:p.Leu812=
XM_011513237.1:c.2434C= XP_011511539.1:p.Leu812=
XM_011513238.1:c.2434C= XP_011511540.1:p.Leu812=
XM_011513239.1:c.1846C= XP_011511541.1:p.Leu616=
XM_006713789.3:c.2434C= XP_006713852.1:p.Leu812=
XM_017007324.1:c.2434C= XP_016862813.1:p.Leu812=
XM_017007325.1:c.2434C= XP_016862814.1:p.Leu812=
NM_000388.4:c.2434C= MANE Select NP_000379.3:p.Leu812=
NM_001178065.2:c.2464C= NP_001171536.2:p.Leu822=