Canonical Allele Identifier: CA2580588030

Gene: CASR

Linked Data

• gnomAD v4: 3-122282024-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122282024C>G , CM000665.2:g.122282024C>G	GRCh38
NC_000003.11:g.122000871C>G , CM000665.1:g.122000871C>G	GRCh37
NC_000003.10:g.123483561C>G	NCBI36
NG_009058.1:g.103342C>G
NG_009058.2:g.103357C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.1378-89C>G	ENSP00000418685.2:n.1378-89C>G
ENST00000498619.4:c.1609-59C>G	ENSP00000420194.1:n.1609-59C>G
ENST00000638421.1:c.1609-89C>G	ENSP00000492190.1:n.1609-89C>G
ENST00000639785.2:c.1609-89C>G MANE Select	ENSP00000491584.2:n.1609-89C>G
ENST00000490131.5:c.1609-89C>G	ENSP00000418685.1:n.1609-89C>G
ENST00000498619.2:c.1609-59C>G	ENSP00000420194.1:n.1609-59C>G
NM_000388.3:c.1609-89C>G	NP_000379.2:n.1609-89C>G
NM_001178065.1:c.1609-59C>G	NP_001171536.1:n.1609-59C>G
XM_005247836.2:c.1609-89C>G	XP_005247893.1:n.1609-89C>G
XM_005247837.2:c.1126-89C>G	XP_005247894.1:n.1126-89C>G
XM_006713789.2:c.1609-89C>G	XP_006713852.1:n.1609-89C>G
XM_011513237.1:c.1609-89C>G	XP_011511539.1:n.1609-89C>G
XM_011513238.1:c.1609-89C>G	XP_011511540.1:n.1609-89C>G
XM_011513239.1:c.1021-89C>G	XP_011511541.1:n.1021-89C>G
XM_006713789.3:c.1609-89C>G	XP_006713852.1:n.1609-89C>G
XM_017007324.1:c.1609-89C>G	XP_016862813.1:n.1609-89C>G
XM_017007325.1:c.1609-89C>G	XP_016862814.1:n.1609-89C>G
NM_000388.4:c.1609-89C>G MANE Select	NP_000379.3:n.1609-89C>G
NM_001178065.2:c.1609-59C>G	NP_001171536.2:n.1609-59C>G