Canonical Allele Identifier: CA354157900

Gene: CASR

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122283855T>C , CM000665.2:g.122283855T>C	GRCh38
NC_000003.11:g.122002702T>C , CM000665.1:g.122002702T>C	GRCh37
NC_000003.10:g.123485392T>C	NCBI36
NG_009058.1:g.105173T>C
NG_009058.2:g.105188T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000388.4:c.1901T>C MANE Select	NP_000379.3:p.Phe634Ser
ENST00000639785.2:c.1901T>C MANE Select	ENSP00000491584.2:p.Phe634Ser
NM_000388.3:c.1901T>C	NP_000379.2:p.Phe634Ser
NM_001178065.1:c.1931T>C	NP_001171536.1:p.Phe644Ser
NM_001178065.2:c.1931T>C	NP_001171536.2:p.Phe644Ser
ENST00000490131.5:c.1901T>C	ENSP00000418685.1:p.Phe634Ser
ENST00000490131.7:c.1670T>C	ENSP00000418685.2:p.Phe557Ser
ENST00000498619.2:c.1931T>C	ENSP00000420194.1:p.Phe644Ser
ENST00000498619.4:c.1931T>C	ENSP00000420194.1:p.Phe644Ser
ENST00000638421.1:c.1901T>C	ENSP00000492190.1:p.Phe634Ser
XM_005247836.2:c.1901T>C	XP_005247893.1:p.Phe634Ser
XM_005247837.2:c.1418T>C	XP_005247894.1:p.Phe473Ser
XM_006713789.2:c.1901T>C	XP_006713852.1:p.Phe634Ser
XM_006713789.3:c.1901T>C	XP_006713852.1:p.Phe634Ser
XM_011513237.1:c.1901T>C	XP_011511539.1:p.Phe634Ser
XM_011513238.1:c.1901T>C	XP_011511540.1:p.Phe634Ser
XM_011513239.1:c.1313T>C	XP_011511541.1:p.Phe438Ser
XM_017007324.1:c.1901T>C	XP_016862813.1:p.Phe634Ser
XM_017007325.1:c.1901T>C	XP_016862814.1:p.Phe634Ser