Canonical Allele Identifier: CA1397845508
Community Standard Title: NM_000388.4(CASR):c.-243+18027C=
Gene: CASR HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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