Canonical Allele Identifier: CA144613

Gene: CASR

Linked Data

• ClinVar Variation Id: 60669
• ClinVar RCV Id: RCV000054483
• dbSNP Id: rs397514729
• MyVariant Identifiers: chr3:g.121973121A>G (hg19) ; chr3:g.122254274A>G (hg38)
• PubMed: PMID:15005845 ; PMID:17048213

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122254274A>G , CM000665.2:g.122254274A>G	GRCh38
NC_000003.11:g.121973121A>G , CM000665.1:g.121973121A>G	GRCh37
NC_000003.10:g.123455811A>G	NCBI36
NG_009058.1:g.75592A>G
NG_009058.2:g.75607A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.85A>G	ENSP00000418685.2:p.Lys29Glu
ENST00000498619.4:c.85A>G	ENSP00000420194.1:p.Lys29Glu
ENST00000638296.1:n.4A>G
ENST00000638421.1:c.85A>G	ENSP00000492190.1:p.Lys29Glu
ENST00000639785.2:c.85A>G MANE Select	ENSP00000491584.2:p.Lys29Glu
ENST00000490131.5:c.85A>G	ENSP00000418685.1:p.Lys29Glu
ENST00000498619.2:c.85A>G	ENSP00000420194.1:p.Lys29Glu
NM_000388.3:c.85A>G	NP_000379.2:p.Lys29Glu
NM_001178065.1:c.85A>G	NP_001171536.1:p.Lys29Glu
XM_005247836.2:c.85A>G	XP_005247893.1:p.Lys29Glu
XM_006713789.2:c.85A>G	XP_006713852.1:p.Lys29Glu
XM_011513237.1:c.85A>G	XP_011511539.1:p.Lys29Glu
XM_011513238.1:c.85A>G	XP_011511540.1:p.Lys29Glu
XM_006713789.3:c.85A>G	XP_006713852.1:p.Lys29Glu
XM_017007324.1:c.85A>G	XP_016862813.1:p.Lys29Glu
XM_017007325.1:c.85A>G	XP_016862814.1:p.Lys29Glu
NM_000388.4:c.85A>G MANE Select	NP_000379.3:p.Lys29Glu
NM_001178065.2:c.85A>G	NP_001171536.2:p.Lys29Glu