Canonical Allele Identifier: CA212893
Gene: CASR HGNC NCBI

Linked Data

ClinVar Variation Id: 8342
dbSNP Id: rs797044441

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122257080G>T , CM000665.2:g.122257080G>T GRCh38
NC_000003.11:g.121975927G>T , CM000665.1:g.121975927G>T GRCh37
NC_000003.10:g.123458617G>T NCBI36
NG_009058.1:g.78398G>T
NG_009058.2:g.78413G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000490131.7:c.186-1G>T ENSP00000418685.2:n.186-1G>T
ENST00000498619.4:c.186-1G>T ENSP00000420194.1:n.186-1G>T
ENST00000638296.1:n.105-1G>T
ENST00000638421.1:c.186-1G>T ENSP00000492190.1:n.186-1G>T
ENST00000639785.2:c.186-1G>T MANE Select ENSP00000491584.2:n.186-1G>T
ENST00000490131.5:c.186-1G>T ENSP00000418685.1:n.186-1G>T
ENST00000490186.1:n.45-1G>T
ENST00000498619.2:c.186-1G>T ENSP00000420194.1:n.186-1G>T
NM_000388.3:c.186-1G>T NP_000379.2:n.186-1G>T
NM_001178065.1:c.186-1G>T NP_001171536.1:n.186-1G>T
XM_005247836.2:c.186-1G>T XP_005247893.1:n.186-1G>T
XM_005247837.2:c.9+2706G>T XP_005247894.1:n.9+2706G>T
XM_006713789.2:c.186-1G>T XP_006713852.1:n.186-1G>T
XM_011513237.1:c.186-1G>T XP_011511539.1:n.186-1G>T
XM_011513238.1:c.186-1G>T XP_011511540.1:n.186-1G>T
XM_006713789.3:c.186-1G>T XP_006713852.1:n.186-1G>T
XM_017007324.1:c.186-1G>T XP_016862813.1:n.186-1G>T
XM_017007325.1:c.186-1G>T XP_016862814.1:n.186-1G>T
NM_000388.4:c.186-1G>T MANE Select NP_000379.3:n.186-1G>T
NM_001178065.2:c.186-1G>T NP_001171536.2:n.186-1G>T