Canonical Allele Identifier: CA354160347
Gene: CASR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122284539T>A , CM000665.2:g.122284539T>A GRCh38
NC_000003.11:g.122003386T>A , CM000665.1:g.122003386T>A GRCh37
NC_000003.10:g.123486076T>A NCBI36
NG_009058.1:g.105857T>A
NG_009058.2:g.105872T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000490131.7:c.2354T>A ENSP00000418685.2:p.Phe785Tyr
ENST00000498619.4:c.2615T>A ENSP00000420194.1:p.Phe872Tyr
ENST00000638421.1:c.2585T>A ENSP00000492190.1:p.Phe862Tyr
ENST00000639785.2:c.2585T>A MANE Select ENSP00000491584.2:p.Phe862Tyr
ENST00000490131.5:c.2585T>A ENSP00000418685.1:p.Phe862Tyr
ENST00000498619.2:c.2615T>A ENSP00000420194.1:p.Phe872Tyr
NM_000388.3:c.2585T>A NP_000379.2:p.Phe862Tyr
NM_001178065.1:c.2615T>A NP_001171536.1:p.Phe872Tyr
XM_005247836.2:c.2585T>A XP_005247893.1:p.Phe862Tyr
XM_005247837.2:c.2102T>A XP_005247894.1:p.Phe701Tyr
XM_006713789.2:c.2585T>A XP_006713852.1:p.Phe862Tyr
XM_011513237.1:c.2585T>A XP_011511539.1:p.Phe862Tyr
XM_011513238.1:c.2585T>A XP_011511540.1:p.Phe862Tyr
XM_011513239.1:c.1997T>A XP_011511541.1:p.Phe666Tyr
XM_006713789.3:c.2585T>A XP_006713852.1:p.Phe862Tyr
XM_017007324.1:c.2585T>A XP_016862813.1:p.Phe862Tyr
XM_017007325.1:c.2585T>A XP_016862814.1:p.Phe862Tyr
NM_000388.4:c.2585T>A MANE Select NP_000379.3:p.Phe862Tyr
NM_001178065.2:c.2615T>A NP_001171536.2:p.Phe872Tyr