Canonical Allele Identifier: CA354156183

Gene: CASR

Linked Data

• MyVariant Identifiers: chr3:g.122000994C>T (hg19) ; chr3:g.122282147C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122282147C>T , CM000665.2:g.122282147C>T	GRCh38
NC_000003.11:g.122000994C>T , CM000665.1:g.122000994C>T	GRCh37
NC_000003.10:g.123483684C>T	NCBI36
NG_009058.1:g.103465C>T
NG_009058.2:g.103480C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.1412C>T	ENSP00000418685.2:p.Ala471Val
ENST00000498619.4:c.1673C>T	ENSP00000420194.1:p.Ala558Val
ENST00000638421.1:c.1643C>T	ENSP00000492190.1:p.Ala548Val
ENST00000639785.2:c.1643C>T MANE Select	ENSP00000491584.2:p.Ala548Val
ENST00000490131.5:c.1643C>T	ENSP00000418685.1:p.Ala548Val
ENST00000498619.2:c.1673C>T	ENSP00000420194.1:p.Ala558Val
NM_000388.3:c.1643C>T	NP_000379.2:p.Ala548Val
NM_001178065.1:c.1673C>T	NP_001171536.1:p.Ala558Val
XM_005247836.2:c.1643C>T	XP_005247893.1:p.Ala548Val
XM_005247837.2:c.1160C>T	XP_005247894.1:p.Ala387Val
XM_006713789.2:c.1643C>T	XP_006713852.1:p.Ala548Val
XM_011513237.1:c.1643C>T	XP_011511539.1:p.Ala548Val
XM_011513238.1:c.1643C>T	XP_011511540.1:p.Ala548Val
XM_011513239.1:c.1055C>T	XP_011511541.1:p.Ala352Val
XM_006713789.3:c.1643C>T	XP_006713852.1:p.Ala548Val
XM_017007324.1:c.1643C>T	XP_016862813.1:p.Ala548Val
XM_017007325.1:c.1643C>T	XP_016862814.1:p.Ala548Val
NM_000388.4:c.1643C>T MANE Select	NP_000379.3:p.Ala548Val
NM_001178065.2:c.1673C>T	NP_001171536.2:p.Ala558Val