Canonical Allele Identifier: CA119481

Gene: CASR

Linked Data

• ClinVar Variation Id: 8321
• ClinVar RCV Id: RCV000008822 ; RCV001818146
• dbSNP Id: rs104893691
• MyVariant Identifiers: chr3:g.121976088G>A (hg19) ; chr3:g.122257241G>A (hg38)
• PubMed: PMID:8733126

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122257241G>A , CM000665.2:g.122257241G>A	GRCh38
NC_000003.11:g.121976088G>A , CM000665.1:g.121976088G>A	GRCh37
NC_000003.10:g.123458778G>A	NCBI36
NG_009058.1:g.78559G>A
NG_009058.2:g.78574G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.346G>A	ENSP00000418685.2:p.Ala116Thr
ENST00000498619.4:c.346G>A	ENSP00000420194.1:p.Ala116Thr
ENST00000638296.1:n.265G>A
ENST00000638421.1:c.346G>A	ENSP00000492190.1:p.Ala116Thr
ENST00000639785.2:c.346G>A MANE Select	ENSP00000491584.2:p.Ala116Thr
ENST00000490131.5:c.346G>A	ENSP00000418685.1:p.Ala116Thr
ENST00000490186.1:n.205G>A
ENST00000498619.2:c.346G>A	ENSP00000420194.1:p.Ala116Thr
NM_000388.3:c.346G>A	NP_000379.2:p.Ala116Thr
NM_001178065.1:c.346G>A	NP_001171536.1:p.Ala116Thr
XM_005247836.2:c.346G>A	XP_005247893.1:p.Ala116Thr
XM_005247837.2:c.9+2867G>A	XP_005247894.1:n.9+2867G>A
XM_006713789.2:c.346G>A	XP_006713852.1:p.Ala116Thr
XM_011513237.1:c.346G>A	XP_011511539.1:p.Ala116Thr
XM_011513238.1:c.346G>A	XP_011511540.1:p.Ala116Thr
XM_006713789.3:c.346G>A	XP_006713852.1:p.Ala116Thr
XM_017007324.1:c.346G>A	XP_016862813.1:p.Ala116Thr
XM_017007325.1:c.346G>A	XP_016862814.1:p.Ala116Thr
NM_000388.4:c.346G>A MANE Select	NP_000379.3:p.Ala116Thr
NM_001178065.2:c.346G>A	NP_001171536.2:p.Ala116Thr