Canonical Allele Identifier: CA2569683

Gene: CASR

Linked Data

• ClinVar Variation Id: 1355271
• ClinVar RCV Id: RCV001876454
• dbSNP Id: rs764669682
• ExAC: 3:121994873 G / A
• gnomAD v2: 3-121994873-G-A
• gnomAD v4: 3-122276026-G-A
• MyVariant Identifiers: chr3:g.121994873G>A (hg19) ; chr3:g.122276026G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122276026G>A , CM000665.2:g.122276026G>A	GRCh38
NC_000003.11:g.121994873G>A , CM000665.1:g.121994873G>A	GRCh37
NC_000003.10:g.123477563G>A	NCBI36
NG_009058.1:g.97344G>A
NG_009058.2:g.97359G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.1378-6087G>A	ENSP00000418685.2:n.1378-6087G>A
ENST00000498619.4:c.1592G>A	ENSP00000420194.1:p.Ser531Asn
ENST00000638421.1:c.1592G>A	ENSP00000492190.1:p.Ser531Asn
ENST00000639785.2:c.1592G>A MANE Select	ENSP00000491584.2:p.Ser531Asn
ENST00000490131.5:c.1592G>A	ENSP00000418685.1:p.Ser531Asn
ENST00000498619.2:c.1592G>A	ENSP00000420194.1:p.Ser531Asn
NM_000388.3:c.1592G>A	NP_000379.2:p.Ser531Asn
NM_001178065.1:c.1592G>A	NP_001171536.1:p.Ser531Asn
XM_005247836.2:c.1592G>A	XP_005247893.1:p.Ser531Asn
XM_005247837.2:c.1109G>A	XP_005247894.1:p.Ser370Asn
XM_006713789.2:c.1592G>A	XP_006713852.1:p.Ser531Asn
XM_011513237.1:c.1592G>A	XP_011511539.1:p.Ser531Asn
XM_011513238.1:c.1592G>A	XP_011511540.1:p.Ser531Asn
XM_011513239.1:c.1004G>A	XP_011511541.1:p.Ser335Asn
XM_006713789.3:c.1592G>A	XP_006713852.1:p.Ser531Asn
XM_017007324.1:c.1592G>A	XP_016862813.1:p.Ser531Asn
XM_017007325.1:c.1592G>A	XP_016862814.1:p.Ser531Asn
NM_000388.4:c.1592G>A MANE Select	NP_000379.3:p.Ser531Asn
NM_001178065.2:c.1592G>A	NP_001171536.2:p.Ser531Asn