Canonical Allele Identifier: CA354159080

Gene: CASR

Linked Data

• MyVariant Identifiers: chr3:g.122003019G>A (hg19) ; chr3:g.122284172G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284172G>A , CM000665.2:g.122284172G>A	GRCh38
NC_000003.11:g.122003019G>A , CM000665.1:g.122003019G>A	GRCh37
NC_000003.10:g.123485709G>A	NCBI36
NG_009058.1:g.105490G>A
NG_009058.2:g.105505G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000490131.7:c.1987G>A	ENSP00000418685.2:p.Val663Met
ENST00000498619.4:c.2248G>A	ENSP00000420194.1:p.Val750Met
ENST00000638421.1:c.2218G>A	ENSP00000492190.1:p.Val740Met
ENST00000639785.2:c.2218G>A MANE Select	ENSP00000491584.2:p.Val740Met
ENST00000490131.5:c.2218G>A	ENSP00000418685.1:p.Val740Met
ENST00000498619.2:c.2248G>A	ENSP00000420194.1:p.Val750Met
NM_000388.3:c.2218G>A	NP_000379.2:p.Val740Met
NM_001178065.1:c.2248G>A	NP_001171536.1:p.Val750Met
XM_005247836.2:c.2218G>A	XP_005247893.1:p.Val740Met
XM_005247837.2:c.1735G>A	XP_005247894.1:p.Val579Met
XM_006713789.2:c.2218G>A	XP_006713852.1:p.Val740Met
XM_011513237.1:c.2218G>A	XP_011511539.1:p.Val740Met
XM_011513238.1:c.2218G>A	XP_011511540.1:p.Val740Met
XM_011513239.1:c.1630G>A	XP_011511541.1:p.Val544Met
XM_006713789.3:c.2218G>A	XP_006713852.1:p.Val740Met
XM_017007324.1:c.2218G>A	XP_016862813.1:p.Val740Met
XM_017007325.1:c.2218G>A	XP_016862814.1:p.Val740Met
NM_000388.4:c.2218G>A MANE Select	NP_000379.3:p.Val740Met
NM_001178065.2:c.2248G>A	NP_001171536.2:p.Val750Met