Canonical Allele Identifier: CA354157111

Gene: CASR

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122283698T>A , CM000665.2:g.122283698T>A	GRCh38
NC_000003.11:g.122002545T>A , CM000665.1:g.122002545T>A	GRCh37
NC_000003.10:g.123485235T>A	NCBI36
NG_009058.1:g.105016T>A
NG_009058.2:g.105031T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000388.4:c.1744T>A MANE Select	NP_000379.3:p.Cys582Ser
ENST00000639785.2:c.1744T>A MANE Select	ENSP00000491584.2:p.Cys582Ser
NM_000388.3:c.1744T>A	NP_000379.2:p.Cys582Ser
NM_001178065.1:c.1774T>A	NP_001171536.1:p.Cys592Ser
NM_001178065.2:c.1774T>A	NP_001171536.2:p.Cys592Ser
ENST00000490131.5:c.1744T>A	ENSP00000418685.1:p.Cys582Ser
ENST00000490131.7:c.1513T>A	ENSP00000418685.2:p.Cys505Ser
ENST00000498619.2:c.1774T>A	ENSP00000420194.1:p.Cys592Ser
ENST00000498619.4:c.1774T>A	ENSP00000420194.1:p.Cys592Ser
ENST00000638421.1:c.1744T>A	ENSP00000492190.1:p.Cys582Ser
XM_005247836.2:c.1744T>A	XP_005247893.1:p.Cys582Ser
XM_005247837.2:c.1261T>A	XP_005247894.1:p.Cys421Ser
XM_006713789.2:c.1744T>A	XP_006713852.1:p.Cys582Ser
XM_006713789.3:c.1744T>A	XP_006713852.1:p.Cys582Ser
XM_011513237.1:c.1744T>A	XP_011511539.1:p.Cys582Ser
XM_011513238.1:c.1744T>A	XP_011511540.1:p.Cys582Ser
XM_011513239.1:c.1156T>A	XP_011511541.1:p.Cys386Ser
XM_017007324.1:c.1744T>A	XP_016862813.1:p.Cys582Ser
XM_017007325.1:c.1744T>A	XP_016862814.1:p.Cys582Ser