Canonical Allele Identifier: CA354155368
Gene: CASR HGNC NCBI

Linked Data

ClinVar Variation Id: 3231506
ClinVar RCV Id: RCV004525577

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122275981A>G , CM000665.2:g.122275981A>G GRCh38
NC_000003.11:g.121994828A>G , CM000665.1:g.121994828A>G GRCh37
NC_000003.10:g.123477518A>G NCBI36
NG_009058.1:g.97299A>G
NG_009058.2:g.97314A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000490131.7:c.1378-6132A>G ENSP00000418685.2:n.1378-6132A>G
ENST00000498619.4:c.1547A>G ENSP00000420194.1:p.Lys516Arg
ENST00000638421.1:c.1547A>G ENSP00000492190.1:p.Lys516Arg
ENST00000639785.2:c.1547A>G MANE Select ENSP00000491584.2:p.Lys516Arg
ENST00000490131.5:c.1547A>G ENSP00000418685.1:p.Lys516Arg
ENST00000498619.2:c.1547A>G ENSP00000420194.1:p.Lys516Arg
NM_000388.3:c.1547A>G NP_000379.2:p.Lys516Arg
NM_001178065.1:c.1547A>G NP_001171536.1:p.Lys516Arg
XM_005247836.2:c.1547A>G XP_005247893.1:p.Lys516Arg
XM_005247837.2:c.1064A>G XP_005247894.1:p.Lys355Arg
XM_006713789.2:c.1547A>G XP_006713852.1:p.Lys516Arg
XM_011513237.1:c.1547A>G XP_011511539.1:p.Lys516Arg
XM_011513238.1:c.1547A>G XP_011511540.1:p.Lys516Arg
XM_011513239.1:c.959A>G XP_011511541.1:p.Lys320Arg
XM_006713789.3:c.1547A>G XP_006713852.1:p.Lys516Arg
XM_017007324.1:c.1547A>G XP_016862813.1:p.Lys516Arg
XM_017007325.1:c.1547A>G XP_016862814.1:p.Lys516Arg
NM_000388.4:c.1547A>G MANE Select NP_000379.3:p.Lys516Arg
NM_001178065.2:c.1547A>G NP_001171536.2:p.Lys516Arg