Canonical Allele Identifier: CA394743790

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.11281230C>A , CM000678.2:g.11281230C>A GRCh38
NC_000016.9:g.11375087C>A , CM000678.1:g.11375087C>A GRCh37
NC_000016.8:g.11282588C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000312511.4:c.9G>T (PRM1) MANE Select ENSP00000310515.3:p.Arg3Ser
ENST00000649869.1:n.152+31452C>A (RMI2)
ENST00000312511.3:c.9G>T (PRM1) ENSP00000310515.3:p.Arg3Ser
ENST00000572173.1:c.-515-13986C>A (RMI2) ENSP00000461206.1:n.-515-13986C>A
ENST00000573910.1:n.160+31452C>A (RMI2)
NM_002761.2:c.9G>T (PRM1) NP_002752.1:p.Arg3Ser
XR_933070.1:n.733+31452C>A
XR_933070.3:n.876+31452C>A
NM_002761.3:c.9G>T (PRM1) MANE Select NP_002752.1:p.Arg3Ser