Canonical Allele Identifier: CA2631745916

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.11280972G>T , CM000678.2:g.11280972G>T GRCh38
NC_000016.9:g.11374829G>T , CM000678.1:g.11374829G>T GRCh37
NC_000016.8:g.11282330G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000312511.4:c.*20C>A (PRM1) MANE Select ENSP00000310515.3:n.*20C>A
ENST00000649869.1:n.152+31194G>T (RMI2)
ENST00000312511.3:c.*20C>A (PRM1) ENSP00000310515.3:n.*20C>A
ENST00000572173.1:c.-515-14244G>T (RMI2) ENSP00000461206.1:n.-515-14244G>T
ENST00000573910.1:n.160+31194G>T (RMI2)
NM_002761.2:c.*20C>A (PRM1) NP_002752.1:n.*20C>A
XR_933070.1:n.733+31194G>T
XR_933070.3:n.876+31194G>T
NM_002761.3:c.*20C>A (PRM1) MANE Select NP_002752.1:n.*20C>A