Canonical Allele Identifier: CA10602861

Gene: CASR

Linked Data

• ClinVar Variation Id: 279731
• ClinVar RCV Id: RCV000401051 ; RCV000815977 ; RCV004021054 ; RCV002469093 ; RCV003982979
• dbSNP Id: rs886041154
• gnomAD v4: 3-122254353-C-T
• MyVariant Identifiers: chr3:g.121973200C>T (hg19) ; chr3:g.122254353C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122254353C>T , CM000665.2:g.122254353C>T	GRCh38
NC_000003.11:g.121973200C>T , CM000665.1:g.121973200C>T	GRCh37
NC_000003.10:g.123455890C>T	NCBI36
NG_009058.1:g.75671C>T
NG_009058.2:g.75686C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.164C>T	ENSP00000418685.2:p.Pro55Leu
ENST00000498619.4:c.164C>T	ENSP00000420194.1:p.Pro55Leu
ENST00000638296.1:n.83C>T
ENST00000638421.1:c.164C>T	ENSP00000492190.1:p.Pro55Leu
ENST00000639785.2:c.164C>T MANE Select	ENSP00000491584.2:p.Pro55Leu
ENST00000490131.5:c.164C>T	ENSP00000418685.1:p.Pro55Leu
ENST00000490186.1:n.23C>T
ENST00000498619.2:c.164C>T	ENSP00000420194.1:p.Pro55Leu
NM_000388.3:c.164C>T	NP_000379.2:p.Pro55Leu
NM_001178065.1:c.164C>T	NP_001171536.1:p.Pro55Leu
XM_005247836.2:c.164C>T	XP_005247893.1:p.Pro55Leu
XM_005247837.2:c.-13C>T	XP_005247894.1:n.-13C>T
XM_006713789.2:c.164C>T	XP_006713852.1:p.Pro55Leu
XM_011513237.1:c.164C>T	XP_011511539.1:p.Pro55Leu
XM_011513238.1:c.164C>T	XP_011511540.1:p.Pro55Leu
XM_006713789.3:c.164C>T	XP_006713852.1:p.Pro55Leu
XM_017007324.1:c.164C>T	XP_016862813.1:p.Pro55Leu
XM_017007325.1:c.164C>T	XP_016862814.1:p.Pro55Leu
NM_000388.4:c.164C>T MANE Select	NP_000379.3:p.Pro55Leu
NM_001178065.2:c.164C>T	NP_001171536.2:p.Pro55Leu