Canonical Allele Identifier: CA354161589

Gene: CASR

Linked Data

• ClinVar Variation Id: 1728139
• ClinVar RCV Id: RCV004048464
• MyVariant Identifiers: chr3:g.122003948G>T (hg19) ; chr3:g.122285101G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122285101G>T , CM000665.2:g.122285101G>T	GRCh38
NC_000003.11:g.122003948G>T , CM000665.1:g.122003948G>T	GRCh37
NC_000003.10:g.123486638G>T	NCBI36
NG_009058.1:g.106419G>T
NG_009058.2:g.106434G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2916G>T	ENSP00000418685.2:p.Glu972Asp
ENST00000498619.4:c.3177G>T	ENSP00000420194.1:p.Glu1059Asp
ENST00000638421.1:c.3147G>T	ENSP00000492190.1:p.Glu1049Asp
ENST00000639785.2:c.3147G>T MANE Select	ENSP00000491584.2:p.Glu1049Asp
ENST00000490131.5:c.3147G>T	ENSP00000418685.1:p.Glu1049Asp
ENST00000498619.2:c.3177G>T	ENSP00000420194.1:p.Glu1059Asp
NM_000388.3:c.3147G>T	NP_000379.2:p.Glu1049Asp
NM_001178065.1:c.3177G>T	NP_001171536.1:p.Glu1059Asp
XM_005247836.2:c.3147G>T	XP_005247893.1:p.Glu1049Asp
XM_005247837.2:c.2664G>T	XP_005247894.1:p.Glu888Asp
XM_006713789.2:c.3147G>T	XP_006713852.1:p.Glu1049Asp
XM_011513237.1:c.3147G>T	XP_011511539.1:p.Glu1049Asp
XM_011513238.1:c.3147G>T	XP_011511540.1:p.Glu1049Asp
XM_011513239.1:c.2559G>T	XP_011511541.1:p.Glu853Asp
XM_006713789.3:c.3147G>T	XP_006713852.1:p.Glu1049Asp
XM_017007324.1:c.3147G>T	XP_016862813.1:p.Glu1049Asp
XM_017007325.1:c.3147G>T	XP_016862814.1:p.Glu1049Asp
NM_000388.4:c.3147G>T MANE Select	NP_000379.3:p.Glu1049Asp
NM_001178065.2:c.3177G>T	NP_001171536.2:p.Glu1059Asp