Canonical Allele Identifier: CA9750493

Gene: PANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3889229C>T , CM000682.2:g.3889229C>T	GRCh38
NC_000020.10:g.3869876C>T , CM000682.1:g.3869876C>T	GRCh37
NC_000020.9:g.3817876C>T	NCBI36
NG_008131.3:g.5391C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001324191.1:c.-913C>T	NP_001311120.1:n.-913C>T
NM_001324192.1:c.129C>T	NP_001311121.1:p.Pro43=
NM_024960.4:c.-246+325C>T	NP_079236.3:n.-246+325C>T
NM_024960.5:c.-246+325C>T	NP_079236.3:n.-246+325C>T
NM_024960.6:c.-246+325C>T	NP_079236.3:n.-246+325C>T
NM_153638.2:c.129C>T	NP_705902.2:p.Pro43=
NM_153638.3:c.129C>T	NP_705902.2:p.Pro43=
NM_153638.4:c.129C>T	NP_705902.2:p.Pro43=
NR_136715.1:n.296C>T
ENST00000316562.8:c.129C>T	ENSP00000313377.4:p.Pro43=
ENST00000316562.9:c.129C>T	ENSP00000313377.4:p.Pro43=
ENST00000495692.5:c.-538+213C>T	ENSP00000476745.1:n.-538+213C>T
ENST00000497424.5:c.-246+325C>T	ENSP00000417609.1:n.-246+325C>T
XM_005260836.3:c.-246+213C>T	XP_005260893.3:n.-246+213C>T
XM_005260836.4:c.-246+213C>T	XP_005260893.3:n.-246+213C>T
XM_011529364.1:c.129C>T	XP_011527666.1:p.Pro43=
XM_011529364.3:c.129C>T	XP_011527666.1:p.Pro43=
XM_011529365.1:c.129C>T	XP_011527667.1:p.Pro43=
XM_011529365.2:c.129C>T	XP_011527667.1:p.Pro43=
XM_017028079.2:c.-538+213C>T	XP_016883568.1:n.-538+213C>T
XM_024452002.1:c.-538+325C>T	XP_024307770.1:n.-538+325C>T
XR_002958533.1:n.290C>T