Canonical Allele Identifier: CA354158296

Gene: CASR

Linked Data

• ClinVar Variation Id: 1357772
• ClinVar RCV Id: RCV001878455
• dbSNP Id: rs104893700
• MyVariant Identifiers: chr3:g.122002810G>T (hg19) ; chr3:g.122283963G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122283963G>T , CM000665.2:g.122283963G>T	GRCh38
NC_000003.11:g.122002810G>T , CM000665.1:g.122002810G>T	GRCh37
NC_000003.10:g.123485500G>T	NCBI36
NG_009058.1:g.105281G>T
NG_009058.2:g.105296G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000490131.7:c.1778G>T	ENSP00000418685.2:p.Gly593Val
ENST00000498619.4:c.2039G>T	ENSP00000420194.1:p.Gly680Val
ENST00000638421.1:c.2009G>T	ENSP00000492190.1:p.Gly670Val
ENST00000639785.2:c.2009G>T MANE Select	ENSP00000491584.2:p.Gly670Val
ENST00000490131.5:c.2009G>T	ENSP00000418685.1:p.Gly670Val
ENST00000498619.2:c.2039G>T	ENSP00000420194.1:p.Gly680Val
NM_000388.3:c.2009G>T	NP_000379.2:p.Gly670Val
NM_001178065.1:c.2039G>T	NP_001171536.1:p.Gly680Val
XM_005247836.2:c.2009G>T	XP_005247893.1:p.Gly670Val
XM_005247837.2:c.1526G>T	XP_005247894.1:p.Gly509Val
XM_006713789.2:c.2009G>T	XP_006713852.1:p.Gly670Val
XM_011513237.1:c.2009G>T	XP_011511539.1:p.Gly670Val
XM_011513238.1:c.2009G>T	XP_011511540.1:p.Gly670Val
XM_011513239.1:c.1421G>T	XP_011511541.1:p.Gly474Val
XM_006713789.3:c.2009G>T	XP_006713852.1:p.Gly670Val
XM_017007324.1:c.2009G>T	XP_016862813.1:p.Gly670Val
XM_017007325.1:c.2009G>T	XP_016862814.1:p.Gly670Val
NM_000388.4:c.2009G>T MANE Select	NP_000379.3:p.Gly670Val
NM_001178065.2:c.2039G>T	NP_001171536.2:p.Gly680Val