Canonical Allele Identifier: CA394743602

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.11281138C>G , CM000678.2:g.11281138C>G GRCh38
NC_000016.9:g.11374995C>G , CM000678.1:g.11374995C>G GRCh37
NC_000016.8:g.11282496C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000312511.4:c.101G>C (PRM1) MANE Select ENSP00000310515.3:p.Arg34Thr
ENST00000649869.1:n.152+31360C>G (RMI2)
ENST00000312511.3:c.101G>C (PRM1) ENSP00000310515.3:p.Arg34Thr
ENST00000572173.1:c.-515-14078C>G (RMI2) ENSP00000461206.1:n.-515-14078C>G
ENST00000573910.1:n.160+31360C>G (RMI2)
NM_002761.2:c.101G>C (PRM1) NP_002752.1:p.Arg34Thr
XR_933070.1:n.733+31360C>G
XR_933070.3:n.876+31360C>G
NM_002761.3:c.101G>C (PRM1) MANE Select NP_002752.1:p.Arg34Thr