Canonical Allele Identifier: CA354160012
Gene: CASR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122284429T>G , CM000665.2:g.122284429T>G GRCh38
NC_000003.11:g.122003276T>G , CM000665.1:g.122003276T>G GRCh37
NC_000003.10:g.123485966T>G NCBI36
NG_009058.1:g.105747T>G
NG_009058.2:g.105762T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000490131.7:c.2244T>G ENSP00000418685.2:p.Tyr748Ter
ENST00000498619.4:c.2505T>G ENSP00000420194.1:p.Tyr835Ter
ENST00000638421.1:c.2475T>G ENSP00000492190.1:p.Tyr825Ter
ENST00000639785.2:c.2475T>G MANE Select ENSP00000491584.2:p.Tyr825Ter
ENST00000490131.5:c.2475T>G ENSP00000418685.1:p.Tyr825Ter
ENST00000498619.2:c.2505T>G ENSP00000420194.1:p.Tyr835Ter
NM_000388.3:c.2475T>G NP_000379.2:p.Tyr825Ter
NM_001178065.1:c.2505T>G NP_001171536.1:p.Tyr835Ter
XM_005247836.2:c.2475T>G XP_005247893.1:p.Tyr825Ter
XM_005247837.2:c.1992T>G XP_005247894.1:p.Tyr664Ter
XM_006713789.2:c.2475T>G XP_006713852.1:p.Tyr825Ter
XM_011513237.1:c.2475T>G XP_011511539.1:p.Tyr825Ter
XM_011513238.1:c.2475T>G XP_011511540.1:p.Tyr825Ter
XM_011513239.1:c.1887T>G XP_011511541.1:p.Tyr629Ter
XM_006713789.3:c.2475T>G XP_006713852.1:p.Tyr825Ter
XM_017007324.1:c.2475T>G XP_016862813.1:p.Tyr825Ter
XM_017007325.1:c.2475T>G XP_016862814.1:p.Tyr825Ter
NM_000388.4:c.2475T>G MANE Select NP_000379.3:p.Tyr825Ter
NM_001178065.2:c.2505T>G NP_001171536.2:p.Tyr835Ter