Canonical Allele Identifier: CA11591995

Gene: RAB5A PP2D1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.19984917C>G , CM000665.2:g.19984917C>G	GRCh38
NC_000003.11:g.20026409C>G , CM000665.1:g.20026409C>G	GRCh37
NC_000003.10:g.20001413C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273047.9:c.*1094C>G (RAB5A) MANE Select	ENSP00000273047.4:n.*1094C>G
ENST00000273047.8:c.*1094C>G (RAB5A)	ENSP00000273047.4:n.*1094C>G
ENST00000333083.11:c.1091-621G>C (PP2D1)	ENSP00000331295.7:n.1091-621G>C
NM_001292048.1:c.*1094C>G (RAB5A)	NP_001278977.1:n.*1094C>G
NM_004162.4:c.*1094C>G (RAB5A)	NP_004153.2:n.*1094C>G
NR_027694.1:n.1292-621G>C (PP2D1)
XM_006712988.2:c.1851+505G>C (PP2D1)	XP_006713051.1:n.1851+505G>C
XM_006712989.2:c.1091-4743G>C (PP2D1)	XP_006713052.1:n.1091-4743G>C
XM_011533380.1:c.*463G>C (PP2D1)	XP_011531682.1:n.*463G>C
XR_001740225.2:n.3221C>G (RAB5A)
NM_004162.5:c.*1094C>G (RAB5A) MANE Select	NP_004153.2:n.*1094C>G
NR_027694.2:n.1283-621G>C (PP2D1)
NM_001292048.2:c.*1094C>G (RAB5A)	NP_001278977.1:n.*1094C>G