Canonical Allele Identifier: CA2569796
Gene: CASR HGNC NCBI

Linked Data

ClinVar Variation Id: 1026140
dbSNP Id: rs751816764

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122284185A>T , CM000665.2:g.122284185A>T GRCh38
NC_000003.11:g.122003032A>T , CM000665.1:g.122003032A>T GRCh37
NC_000003.10:g.123485722A>T NCBI36
NG_009058.1:g.105503A>T
NG_009058.2:g.105518A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000490131.7:c.2000A>T ENSP00000418685.2:p.Tyr667Phe
ENST00000498619.4:c.2261A>T ENSP00000420194.1:p.Tyr754Phe
ENST00000638421.1:c.2231A>T ENSP00000492190.1:p.Tyr744Phe
ENST00000639785.2:c.2231A>T MANE Select ENSP00000491584.2:p.Tyr744Phe
ENST00000490131.5:c.2231A>T ENSP00000418685.1:p.Tyr744Phe
ENST00000498619.2:c.2261A>T ENSP00000420194.1:p.Tyr754Phe
NM_000388.3:c.2231A>T NP_000379.2:p.Tyr744Phe
NM_001178065.1:c.2261A>T NP_001171536.1:p.Tyr754Phe
XM_005247836.2:c.2231A>T XP_005247893.1:p.Tyr744Phe
XM_005247837.2:c.1748A>T XP_005247894.1:p.Tyr583Phe
XM_006713789.2:c.2231A>T XP_006713852.1:p.Tyr744Phe
XM_011513237.1:c.2231A>T XP_011511539.1:p.Tyr744Phe
XM_011513238.1:c.2231A>T XP_011511540.1:p.Tyr744Phe
XM_011513239.1:c.1643A>T XP_011511541.1:p.Tyr548Phe
XM_006713789.3:c.2231A>T XP_006713852.1:p.Tyr744Phe
XM_017007324.1:c.2231A>T XP_016862813.1:p.Tyr744Phe
XM_017007325.1:c.2231A>T XP_016862814.1:p.Tyr744Phe
NM_000388.4:c.2231A>T MANE Select NP_000379.3:p.Tyr744Phe
NM_001178065.2:c.2261A>T NP_001171536.2:p.Tyr754Phe