Canonical Allele Identifier: CA1568663114
Community Standard Title: NM_033211.4(MACIR):c.-114+2123C=
Gene: MACIR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.103261019C= , CM000667.2:g.103261019C= GRCh38
NC_000005.9:g.102596720C= , CM000667.1:g.102596720C= GRCh37
NC_000005.8:g.102624619C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_033211.4:c.-114+2123C= MANE Select NP_149988.1:n.-114+2123C=
ENST00000319933.7:c.-114+2123C= MANE Select ENSP00000326110.2:n.-114+2123C=
NM_001316968.1:c.-114+1228C= NP_001303897.1:n.-114+1228C=
NM_001316968.2:c.-114+1228C= NP_001303897.1:n.-114+1228C=
NM_001316969.1:c.-114+1833C= NP_001303898.1:n.-114+1833C=
NM_001316969.2:c.-114+1833C= NP_001303898.1:n.-114+1833C=
NM_001377283.1:c.-114+2584C= NP_001364212.1:n.-114+2584C=
NM_001377284.1:c.-24+2123C= NP_001364213.1:n.-24+2123C=
NM_001377285.1:c.-114+1824C= NP_001364214.1:n.-114+1824C=
NM_001377286.1:c.-114+1742C= NP_001364215.1:n.-114+1742C=
NM_001377287.1:c.-114+1003C= NP_001364216.1:n.-114+1003C=
NM_033211.2:c.-114+2123C= NP_149988.1:n.-114+2123C=
NM_033211.3:c.-114+2123C= NP_149988.1:n.-114+2123C=
ENST00000319933.6:c.-114+2123C= ENSP00000326110.2:n.-114+2123C=
ENST00000510890.1:c.-114+1228C= ENSP00000421270.1:n.-114+1228C=
ENST00000515669.5:c.-114+1833C= ENSP00000422836.1:n.-114+1833C=
XM_005272125.1:c.-114+1742C= XP_005272182.1:n.-114+1742C=