Canonical Allele Identifier: CA354161701
Gene: CASR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122285129T>G , CM000665.2:g.122285129T>G GRCh38
NC_000003.11:g.122003976T>G , CM000665.1:g.122003976T>G GRCh37
NC_000003.10:g.123486666T>G NCBI36
NG_009058.1:g.106447T>G
NG_009058.2:g.106462T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000490131.7:c.2944T>G ENSP00000418685.2:p.Ser982Ala
ENST00000498619.4:c.3205T>G ENSP00000420194.1:p.Ser1069Ala
ENST00000638421.1:c.3175T>G ENSP00000492190.1:p.Ser1059Ala
ENST00000639785.2:c.3175T>G MANE Select ENSP00000491584.2:p.Ser1059Ala
ENST00000490131.5:c.3175T>G ENSP00000418685.1:p.Ser1059Ala
ENST00000498619.2:c.3205T>G ENSP00000420194.1:p.Ser1069Ala
NM_000388.3:c.3175T>G NP_000379.2:p.Ser1059Ala
NM_001178065.1:c.3205T>G NP_001171536.1:p.Ser1069Ala
XM_005247836.2:c.3175T>G XP_005247893.1:p.Ser1059Ala
XM_005247837.2:c.2692T>G XP_005247894.1:p.Ser898Ala
XM_006713789.2:c.3175T>G XP_006713852.1:p.Ser1059Ala
XM_011513237.1:c.3175T>G XP_011511539.1:p.Ser1059Ala
XM_011513238.1:c.3175T>G XP_011511540.1:p.Ser1059Ala
XM_011513239.1:c.2587T>G XP_011511541.1:p.Ser863Ala
XM_006713789.3:c.3175T>G XP_006713852.1:p.Ser1059Ala
XM_017007324.1:c.3175T>G XP_016862813.1:p.Ser1059Ala
XM_017007325.1:c.3175T>G XP_016862814.1:p.Ser1059Ala
NM_000388.4:c.3175T>G MANE Select NP_000379.3:p.Ser1059Ala
NM_001178065.2:c.3205T>G NP_001171536.2:p.Ser1069Ala