Canonical Allele Identifier: CA394743524

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.11281014C>G , CM000678.2:g.11281014C>G GRCh38
NC_000016.9:g.11374871C>G , CM000678.1:g.11374871C>G GRCh37
NC_000016.8:g.11282372C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000312511.4:c.134G>C (PRM1) MANE Select ENSP00000310515.3:p.Arg45Thr
ENST00000649869.1:n.152+31236C>G (RMI2)
ENST00000312511.3:c.134G>C (PRM1) ENSP00000310515.3:p.Arg45Thr
ENST00000572173.1:c.-515-14202C>G (RMI2) ENSP00000461206.1:n.-515-14202C>G
ENST00000573910.1:n.160+31236C>G (RMI2)
NM_002761.2:c.134G>C (PRM1) NP_002752.1:p.Arg45Thr
XR_933070.1:n.733+31236C>G
XR_933070.3:n.876+31236C>G
NM_002761.3:c.134G>C (PRM1) MANE Select NP_002752.1:p.Arg45Thr