Canonical Allele Identifier: CA710120203
Gene: PRIMA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.93738999G>C , CM000676.2:g.93738999G>C GRCh38
NC_000014.8:g.94205345G>C , CM000676.1:g.94205345G>C GRCh37
NC_000014.7:g.93275098G>C NCBI36
NG_009069.1:g.54422C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000393140.6:c.230-1629C>G MANE Select ENSP00000376848.1:n.230-1629C>G
ENST00000316227.3:c.230-1629C>G ENSP00000320948.3:n.230-1629C>G
ENST00000393140.5:c.230-1629C>G ENSP00000376848.1:n.230-1629C>G
ENST00000393143.5:c.230-1629C>G ENSP00000376851.1:n.230-1629C>G
ENST00000477603.5:c.230-1629C>G ENSP00000434370.1:n.230-1629C>G
NM_178013.3:c.230-1629C>G NP_821092.1:n.230-1629C>G
XM_011536456.1:c.230-1629C>G XP_011534758.1:n.230-1629C>G
XM_011536456.2:c.230-1629C>G XP_011534758.1:n.230-1629C>G
XM_024449482.1:c.230-1629C>G XP_024305250.1:n.230-1629C>G
XR_002957532.1:n.338-1629C>G
XR_002957533.1:n.338-1629C>G
NM_178013.4:c.230-1629C>G MANE Select NP_821092.1:n.230-1629C>G