Canonical Allele Identifier: CA435425159

Gene: CASR

Linked Data

• gnomAD v4: 3-122284337-C-A
• MyVariant Identifiers: chr3:g.122003184C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284337C>A , CM000665.2:g.122284337C>A	GRCh38
NC_000003.11:g.122003184C>A , CM000665.1:g.122003184C>A	GRCh37
NC_000003.10:g.123485874C>A	NCBI36
NG_009058.1:g.105655C>A
NG_009058.2:g.105670C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2152C>A	ENSP00000418685.2:p.Arg718=
ENST00000498619.4:c.2413C>A	ENSP00000420194.1:p.Arg805=
ENST00000638421.1:c.2383C>A	ENSP00000492190.1:p.Arg795=
ENST00000639785.2:c.2383C>A MANE Select	ENSP00000491584.2:p.Arg795=
ENST00000490131.5:c.2383C>A	ENSP00000418685.1:p.Arg795=
ENST00000498619.2:c.2413C>A	ENSP00000420194.1:p.Arg805=
NM_000388.3:c.2383C>A	NP_000379.2:p.Arg795=
NM_001178065.1:c.2413C>A	NP_001171536.1:p.Arg805=
XM_005247836.2:c.2383C>A	XP_005247893.1:p.Arg795=
XM_005247837.2:c.1900C>A	XP_005247894.1:p.Arg634=
XM_006713789.2:c.2383C>A	XP_006713852.1:p.Arg795=
XM_011513237.1:c.2383C>A	XP_011511539.1:p.Arg795=
XM_011513238.1:c.2383C>A	XP_011511540.1:p.Arg795=
XM_011513239.1:c.1795C>A	XP_011511541.1:p.Arg599=
XM_006713789.3:c.2383C>A	XP_006713852.1:p.Arg795=
XM_017007324.1:c.2383C>A	XP_016862813.1:p.Arg795=
XM_017007325.1:c.2383C>A	XP_016862814.1:p.Arg795=
NM_000388.4:c.2383C>A MANE Select	NP_000379.3:p.Arg795=
NM_001178065.2:c.2413C>A	NP_001171536.2:p.Arg805=