Canonical Allele Identifier: CA8705878
Community Standard Title: NM_002805.6(PSMC5):c.264+9A>G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63829958A>G , CM000679.2:g.63829958A>G GRCh38
NC_000017.10:g.61907318A>G , CM000679.1:g.61907318A>G GRCh37
NC_000017.9:g.59261050A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_002805.6:c.264+9A>G (PSMC5) MANE Select NP_002796.4:n.264+9A>G
ENST00000310144.11:c.264+9A>G (PSMC5) MANE Select ENSP00000310572.6:n.264+9A>G
NM_001199163.1:c.240+9A>G (PSMC5) NP_001186092.1:n.240+9A>G
NM_001199163.2:c.240+9A>G (PSMC5) NP_001186092.1:n.240+9A>G
NM_002805.5:c.264+9A>G (PSMC5) NP_002796.4:n.264+9A>G
ENST00000310144.10:c.264+9A>G (PSMC5) ENSP00000310572.6:n.264+9A>G
ENST00000375812.8:c.240+9A>G (PSMC5) ENSP00000364970.4:n.240+9A>G
ENST00000578570.5:n.674+9A>G (PSMC5)
ENST00000579147.5:n.1579+9A>G (PSMC5)
ENST00000579708.5:c.34-175A>G (PSMC5) ENSP00000464405.1:n.34-175A>G
ENST00000580295.1:n.55T>C (FTSJ3)
ENST00000580864.5:c.240+9A>G (PSMC5) ENSP00000462495.1:n.240+9A>G
ENST00000581764.1:n.1254A>G (PSMC5)
ENST00000581842.5:c.240+9A>G (PSMC5) ENSP00000463549.1:n.240+9A>G
ENST00000581882.5:c.240+9A>G (PSMC5) ENSP00000463938.1:n.240+9A>G
ENST00000582130.5:c.264+9A>G (PSMC5) ENSP00000463801.1:n.264+9A>G
ENST00000584320.5:c.240+9A>G (PSMC5) ENSP00000462098.1:n.240+9A>G
ENST00000584536.5:c.264+9A>G (PSMC5) ENSP00000464646.1:n.264+9A>G
ENST00000584880.6:c.240+9A>G (PSMC5) ENSP00000464347.2:n.240+9A>G
ENST00000585123.5:c.240+9A>G (PSMC5) ENSP00000464602.1:n.240+9A>G
ENST00000585242.5:c.*35+9A>G (PSMC5) ENSP00000463107.1:n.*35+9A>G
ENST00000703608.1:c.167-313A>G (PSMC5) ENSP00000515392.1:n.167-313A>G
ENST00000703609.1:c.240+9A>G (PSMC5) ENSP00000515393.1:n.240+9A>G
ENST00000703610.1:c.240+9A>G (PSMC5) ENSP00000515394.1:n.240+9A>G
ENST00000703611.1:c.240+9A>G (PSMC5) ENSP00000515395.1:n.240+9A>G
XM_006721980.1:c.264+9A>G (PSMC5) XP_006722043.1:n.264+9A>G
XM_024450840.1:c.264+9A>G (PSMC5) XP_024306608.1:n.264+9A>G
XM_024450841.1:c.240+9A>G (PSMC5) XP_024306609.1:n.240+9A>G
XR_934508.1:n.337+9A>G (PSMC5)
XR_934508.2:n.324+9A>G (PSMC5)