Canonical Allele Identifier: CA82747908

Gene: CASR

Linked Data

• dbSNP Id: rs113610526
• gnomAD v2: 3-122000822-T-G
• gnomAD v3: 3-122281975-T-G
• gnomAD v4: 3-122281975-T-G
• MyVariant Identifiers: chr3:g.122000822T>G (hg19) ; chr3:g.122281975T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122281975T>G , CM000665.2:g.122281975T>G	GRCh38
NC_000003.11:g.122000822T>G , CM000665.1:g.122000822T>G	GRCh37
NC_000003.10:g.123483512T>G	NCBI36
NG_009058.1:g.103293T>G
NG_009058.2:g.103308T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000490131.7:c.1378-138T>G	ENSP00000418685.2:n.1378-138T>G
ENST00000498619.4:c.1609-108T>G	ENSP00000420194.1:n.1609-108T>G
ENST00000638421.1:c.1609-138T>G	ENSP00000492190.1:n.1609-138T>G
ENST00000639785.2:c.1609-138T>G MANE Select	ENSP00000491584.2:n.1609-138T>G
ENST00000490131.5:c.1609-138T>G	ENSP00000418685.1:n.1609-138T>G
ENST00000498619.2:c.1609-108T>G	ENSP00000420194.1:n.1609-108T>G
NM_000388.3:c.1609-138T>G	NP_000379.2:n.1609-138T>G
NM_001178065.1:c.1609-108T>G	NP_001171536.1:n.1609-108T>G
XM_005247836.2:c.1609-138T>G	XP_005247893.1:n.1609-138T>G
XM_005247837.2:c.1126-138T>G	XP_005247894.1:n.1126-138T>G
XM_006713789.2:c.1609-138T>G	XP_006713852.1:n.1609-138T>G
XM_011513237.1:c.1609-138T>G	XP_011511539.1:n.1609-138T>G
XM_011513238.1:c.1609-138T>G	XP_011511540.1:n.1609-138T>G
XM_011513239.1:c.1021-138T>G	XP_011511541.1:n.1021-138T>G
XM_006713789.3:c.1609-138T>G	XP_006713852.1:n.1609-138T>G
XM_017007324.1:c.1609-138T>G	XP_016862813.1:n.1609-138T>G
XM_017007325.1:c.1609-138T>G	XP_016862814.1:n.1609-138T>G
NM_000388.4:c.1609-138T>G MANE Select	NP_000379.3:n.1609-138T>G
NM_001178065.2:c.1609-108T>G	NP_001171536.2:n.1609-108T>G