Canonical Allele Identifier: CA394743793

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.11281231C>G , CM000678.2:g.11281231C>G GRCh38
NC_000016.9:g.11375088C>G , CM000678.1:g.11375088C>G GRCh37
NC_000016.8:g.11282589C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000312511.4:c.8G>C (PRM1) MANE Select ENSP00000310515.3:p.Arg3Thr
ENST00000649869.1:n.152+31453C>G (RMI2)
ENST00000312511.3:c.8G>C (PRM1) ENSP00000310515.3:p.Arg3Thr
ENST00000572173.1:c.-515-13985C>G (RMI2) ENSP00000461206.1:n.-515-13985C>G
ENST00000573910.1:n.160+31453C>G (RMI2)
NM_002761.2:c.8G>C (PRM1) NP_002752.1:p.Arg3Thr
XR_933070.1:n.733+31453C>G
XR_933070.3:n.876+31453C>G
NM_002761.3:c.8G>C (PRM1) MANE Select NP_002752.1:p.Arg3Thr