Canonical Allele Identifier: CA354161296
Gene: CASR HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122284985G>A , CM000665.2:g.122284985G>A GRCh38
NC_000003.11:g.122003832G>A , CM000665.1:g.122003832G>A GRCh37
NC_000003.10:g.123486522G>A NCBI36
NG_009058.2:g.106318G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000490131.7:c.2800G>A ENSP00000418685.2:p.Glu934Lys
ENST00000498619.4:c.3061G>A ENSP00000420194.1:p.Glu1021Lys
ENST00000638421.1:c.3031G>A ENSP00000492190.1:p.Glu1011Lys
ENST00000639785.2:c.3031G>A MANE Select ENSP00000491584.2:p.Glu1011Lys
ENST00000490131.5:c.3031G>A ENSP00000418685.1:p.Glu1011Lys
ENST00000498619.2:c.3061G>A ENSP00000420194.1:p.Glu1021Lys
XM_005247836.2:c.3031G>A XP_005247893.1:p.Glu1011Lys
XM_005247837.2:c.2548G>A XP_005247894.1:p.Glu850Lys
XM_006713789.2:c.3031G>A XP_006713852.1:p.Glu1011Lys
XM_011513237.1:c.3031G>A XP_011511539.1:p.Glu1011Lys
XM_011513238.1:c.3031G>A XP_011511540.1:p.Glu1011Lys
XM_011513239.1:c.2443G>A XP_011511541.1:p.Glu815Lys
XM_006713789.3:c.3031G>A XP_006713852.1:p.Glu1011Lys
XM_017007324.1:c.3031G>A XP_016862813.1:p.Glu1011Lys
XM_017007325.1:c.3031G>A XP_016862814.1:p.Glu1011Lys
NM_000388.4:c.3031G>A MANE Select NP_000379.3:p.Glu1011Lys
NM_001178065.2:c.3061G>A NP_001171536.2:p.Glu1021Lys