Canonical Allele Identifier: CA9750525

Gene: PANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3889381G>C , CM000682.2:g.3889381G>C	GRCh38
NC_000020.10:g.3870028G>C , CM000682.1:g.3870028G>C	GRCh37
NC_000020.9:g.3818028G>C	NCBI36
NG_008131.3:g.5543G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316562.9:c.281G>C	ENSP00000313377.4:p.Arg94Pro
ENST00000316562.8:c.281G>C	ENSP00000313377.4:p.Arg94Pro
ENST00000495692.5:c.-538+365G>C	ENSP00000476745.1:n.-538+365G>C
ENST00000497424.5:c.-246+477G>C	ENSP00000417609.1:n.-246+477G>C
NM_024960.4:c.-246+477G>C	NP_079236.3:n.-246+477G>C
NM_153638.2:c.281G>C	NP_705902.2:p.Arg94Pro
XM_005260836.3:c.-246+365G>C	XP_005260893.3:n.-246+365G>C
XM_011529364.1:c.281G>C	XP_011527666.1:p.Arg94Pro
XM_011529365.1:c.281G>C	XP_011527667.1:p.Arg94Pro
NM_001324191.1:c.-761G>C	NP_001311120.1:n.-761G>C
NM_001324192.1:c.281G>C	NP_001311121.1:p.Arg94Pro
NM_024960.5:c.-246+477G>C	NP_079236.3:n.-246+477G>C
NM_153638.3:c.281G>C	NP_705902.2:p.Arg94Pro
NR_136715.1:n.448G>C
XM_005260836.4:c.-246+365G>C	XP_005260893.3:n.-246+365G>C
XM_011529364.3:c.281G>C	XP_011527666.1:p.Arg94Pro
XM_011529365.2:c.281G>C	XP_011527667.1:p.Arg94Pro
XM_017028079.2:c.-538+365G>C	XP_016883568.1:n.-538+365G>C
XM_024452002.1:c.-538+477G>C	XP_024307770.1:n.-538+477G>C
XR_002958533.1:n.442G>C
NM_024960.6:c.-246+477G>C	NP_079236.3:n.-246+477G>C
NM_153638.4:c.281G>C	NP_705902.2:p.Arg94Pro