Canonical Allele Identifier: CA1397872151

Gene: CASR

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284302T= , CM000665.2:g.122284302T=	GRCh38
NC_000003.11:g.122003149T= , CM000665.1:g.122003149T=	GRCh37
NC_000003.10:g.123485839T=	NCBI36
NG_009058.1:g.105620T=
NG_009058.2:g.105635T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2117T=	ENSP00000418685.2:p.Leu706=
ENST00000498619.4:c.2378T=	ENSP00000420194.1:p.Leu793=
ENST00000638421.1:c.2348T=	ENSP00000492190.1:p.Leu783=
ENST00000639785.2:c.2348T= MANE Select	ENSP00000491584.2:p.Leu783=
ENST00000490131.5:c.2348T=	ENSP00000418685.1:p.Leu783=
ENST00000498619.2:c.2378T=	ENSP00000420194.1:p.Leu793=
NM_000388.3:c.2348T=	NP_000379.2:p.Leu783=
NM_001178065.1:c.2378T=	NP_001171536.1:p.Leu793=
XM_005247836.2:c.2348T=	XP_005247893.1:p.Leu783=
XM_005247837.2:c.1865T=	XP_005247894.1:p.Leu622=
XM_006713789.2:c.2348T=	XP_006713852.1:p.Leu783=
XM_011513237.1:c.2348T=	XP_011511539.1:p.Leu783=
XM_011513238.1:c.2348T=	XP_011511540.1:p.Leu783=
XM_011513239.1:c.1760T=	XP_011511541.1:p.Leu587=
XM_006713789.3:c.2348T=	XP_006713852.1:p.Leu783=
XM_017007324.1:c.2348T=	XP_016862813.1:p.Leu783=
XM_017007325.1:c.2348T=	XP_016862814.1:p.Leu783=
NM_000388.4:c.2348T= MANE Select	NP_000379.3:p.Leu783=
NM_001178065.2:c.2378T=	NP_001171536.2:p.Leu793=