Canonical Allele Identifier: CA354155571

Gene: CASR

Linked Data

• ClinVar Variation Id: 2097877
• ClinVar RCV Id: RCV003019028
• MyVariant Identifiers: chr3:g.121994879T>A (hg19) ; chr3:g.122276032T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122276032T>A , CM000665.2:g.122276032T>A	GRCh38
NC_000003.11:g.121994879T>A , CM000665.1:g.121994879T>A	GRCh37
NC_000003.10:g.123477569T>A	NCBI36
NG_009058.1:g.97350T>A
NG_009058.2:g.97365T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.1378-6081T>A	ENSP00000418685.2:n.1378-6081T>A
ENST00000498619.4:c.1598T>A	ENSP00000420194.1:p.Phe533Tyr
ENST00000638421.1:c.1598T>A	ENSP00000492190.1:p.Phe533Tyr
ENST00000639785.2:c.1598T>A MANE Select	ENSP00000491584.2:p.Phe533Tyr
ENST00000490131.5:c.1598T>A	ENSP00000418685.1:p.Phe533Tyr
ENST00000498619.2:c.1598T>A	ENSP00000420194.1:p.Phe533Tyr
NM_000388.3:c.1598T>A	NP_000379.2:p.Phe533Tyr
NM_001178065.1:c.1598T>A	NP_001171536.1:p.Phe533Tyr
XM_005247836.2:c.1598T>A	XP_005247893.1:p.Phe533Tyr
XM_005247837.2:c.1115T>A	XP_005247894.1:p.Phe372Tyr
XM_006713789.2:c.1598T>A	XP_006713852.1:p.Phe533Tyr
XM_011513237.1:c.1598T>A	XP_011511539.1:p.Phe533Tyr
XM_011513238.1:c.1598T>A	XP_011511540.1:p.Phe533Tyr
XM_011513239.1:c.1010T>A	XP_011511541.1:p.Phe337Tyr
XM_006713789.3:c.1598T>A	XP_006713852.1:p.Phe533Tyr
XM_017007324.1:c.1598T>A	XP_016862813.1:p.Phe533Tyr
XM_017007325.1:c.1598T>A	XP_016862814.1:p.Phe533Tyr
NM_000388.4:c.1598T>A MANE Select	NP_000379.3:p.Phe533Tyr
NM_001178065.2:c.1598T>A	NP_001171536.2:p.Phe533Tyr