Canonical Allele Identifier: CA11417836

Gene: CASR

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122201839C>G , CM000665.2:g.122201839C>G	GRCh38
NC_000003.11:g.121920686C>G , CM000665.1:g.121920686C>G	GRCh37
NC_000003.10:g.123403376C>G	NCBI36
NG_009058.1:g.23157C>G
NG_009058.2:g.23172C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000388.4:c.-243+18027C>G MANE Select	NP_000379.3:n.-243+18027C>G
ENST00000639785.2:c.-243+18027C>G MANE Select	ENSP00000491584.2:n.-243+18027C>G
NM_000388.3:c.-243+18027C>G	NP_000379.2:n.-243+18027C>G
NM_001178065.1:c.-243+17310C>G	NP_001171536.1:n.-243+17310C>G
NM_001178065.2:c.-243+17310C>G	NP_001171536.2:n.-243+17310C>G
ENST00000490131.5:c.-243+18027C>G	ENSP00000418685.1:n.-243+18027C>G
ENST00000498619.2:c.-243+17310C>G	ENSP00000420194.1:n.-243+17310C>G
ENST00000498619.4:c.-243+17310C>G	ENSP00000420194.1:n.-243+17310C>G
ENST00000638421.1:c.-243+17310C>G	ENSP00000492190.1:n.-243+17310C>G
ENST00000643573.1:n.98+17310C>G
XM_005247836.2:c.-243+17657C>G	XP_005247893.1:n.-243+17657C>G
XM_006713789.2:c.-243+17310C>G	XP_006713852.1:n.-243+17310C>G
XM_006713789.3:c.-243+17310C>G	XP_006713852.1:n.-243+17310C>G
XM_011513237.1:c.-2263+17310C>G	XP_011511539.1:n.-2263+17310C>G
XM_011513238.1:c.-2263+18027C>G	XP_011511540.1:n.-2263+18027C>G