Canonical Allele Identifier: CA354160894

Gene: CASR

Linked Data

• MyVariant Identifiers: chr3:g.122003644T>G (hg19) ; chr3:g.122284797T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284797T>G , CM000665.2:g.122284797T>G	GRCh38
NC_000003.11:g.122003644T>G , CM000665.1:g.122003644T>G	GRCh37
NC_000003.10:g.123486334T>G	NCBI36
NG_009058.1:g.106115T>G
NG_009058.2:g.106130T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2612T>G	ENSP00000418685.2:p.Leu871Arg
ENST00000498619.4:c.2873T>G	ENSP00000420194.1:p.Leu958Arg
ENST00000638421.1:c.2843T>G	ENSP00000492190.1:p.Leu948Arg
ENST00000639785.2:c.2843T>G MANE Select	ENSP00000491584.2:p.Leu948Arg
ENST00000490131.5:c.2843T>G	ENSP00000418685.1:p.Leu948Arg
ENST00000498619.2:c.2873T>G	ENSP00000420194.1:p.Leu958Arg
NM_000388.3:c.2843T>G	NP_000379.2:p.Leu948Arg
NM_001178065.1:c.2873T>G	NP_001171536.1:p.Leu958Arg
XM_005247836.2:c.2843T>G	XP_005247893.1:p.Leu948Arg
XM_005247837.2:c.2360T>G	XP_005247894.1:p.Leu787Arg
XM_006713789.2:c.2843T>G	XP_006713852.1:p.Leu948Arg
XM_011513237.1:c.2843T>G	XP_011511539.1:p.Leu948Arg
XM_011513238.1:c.2843T>G	XP_011511540.1:p.Leu948Arg
XM_011513239.1:c.2255T>G	XP_011511541.1:p.Leu752Arg
XM_006713789.3:c.2843T>G	XP_006713852.1:p.Leu948Arg
XM_017007324.1:c.2843T>G	XP_016862813.1:p.Leu948Arg
XM_017007325.1:c.2843T>G	XP_016862814.1:p.Leu948Arg
NM_000388.4:c.2843T>G MANE Select	NP_000379.3:p.Leu948Arg
NM_001178065.2:c.2873T>G	NP_001171536.2:p.Leu958Arg