Canonical Allele Identifier: CA435251924

Gene: CASR

Linked Data

• ClinVar Variation Id: 1781823
• ClinVar RCV Id: RCV003100908 ; RCV004060148
• MyVariant Identifiers: chr3:g.122002679G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122283832G>A , CM000665.2:g.122283832G>A	GRCh38
NC_000003.11:g.122002679G>A , CM000665.1:g.122002679G>A	GRCh37
NC_000003.10:g.123485369G>A	NCBI36
NG_009058.1:g.105150G>A
NG_009058.2:g.105165G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.1647G>A	ENSP00000418685.2:p.Leu549=
ENST00000498619.4:c.1908G>A	ENSP00000420194.1:p.Leu636=
ENST00000638421.1:c.1878G>A	ENSP00000492190.1:p.Leu626=
ENST00000639785.2:c.1878G>A MANE Select	ENSP00000491584.2:p.Leu626=
ENST00000490131.5:c.1878G>A	ENSP00000418685.1:p.Leu626=
ENST00000498619.2:c.1908G>A	ENSP00000420194.1:p.Leu636=
NM_000388.3:c.1878G>A	NP_000379.2:p.Leu626=
NM_001178065.1:c.1908G>A	NP_001171536.1:p.Leu636=
XM_005247836.2:c.1878G>A	XP_005247893.1:p.Leu626=
XM_005247837.2:c.1395G>A	XP_005247894.1:p.Leu465=
XM_006713789.2:c.1878G>A	XP_006713852.1:p.Leu626=
XM_011513237.1:c.1878G>A	XP_011511539.1:p.Leu626=
XM_011513238.1:c.1878G>A	XP_011511540.1:p.Leu626=
XM_011513239.1:c.1290G>A	XP_011511541.1:p.Leu430=
XM_006713789.3:c.1878G>A	XP_006713852.1:p.Leu626=
XM_017007324.1:c.1878G>A	XP_016862813.1:p.Leu626=
XM_017007325.1:c.1878G>A	XP_016862814.1:p.Leu626=
NM_000388.4:c.1878G>A MANE Select	NP_000379.3:p.Leu626=
NM_001178065.2:c.1908G>A	NP_001171536.2:p.Leu636=