Canonical Allele Identifier: CA9750579

Gene: PANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3889534C>A , CM000682.2:g.3889534C>A	GRCh38
NC_000020.10:g.3870181C>A , CM000682.1:g.3870181C>A	GRCh37
NC_000020.9:g.3818181C>A	NCBI36
NG_008131.3:g.5696C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001386393.1:c.104C>A MANE Select	NP_001373322.1:p.Ser35Ter
ENST00000610179.7:c.104C>A MANE Select	ENSP00000477429.2:p.Ser35Ter
NM_001324191.1:c.-608C>A	NP_001311120.1:n.-608C>A
NM_001324191.2:c.-608C>A	NP_001311120.1:n.-608C>A
NM_001324192.1:c.434C>A	NP_001311121.1:p.Ser145Ter
NM_024960.4:c.-246+630C>A	NP_079236.3:n.-246+630C>A
NM_024960.5:c.-246+630C>A	NP_079236.3:n.-246+630C>A
NM_024960.6:c.-246+630C>A	NP_079236.3:n.-246+630C>A
NM_153638.2:c.434C>A	NP_705902.2:p.Ser145Ter
NM_153638.3:c.434C>A	NP_705902.2:p.Ser145Ter
NM_153638.4:c.434C>A	NP_705902.2:p.Ser145Ter
NR_136715.1:n.601C>A
NR_136715.2:n.148C>A
ENST00000316562.8:c.434C>A	ENSP00000313377.4:p.Ser145Ter
ENST00000316562.9:c.434C>A	ENSP00000313377.4:p.Ser145Ter
ENST00000336066.7:c.65C>A	ENSP00000477229.1:p.Ser22Ter
ENST00000336066.8:c.104C>A	ENSP00000477229.2:p.Ser35Ter
ENST00000495692.5:c.-538+518C>A	ENSP00000476745.1:n.-538+518C>A
ENST00000497424.5:c.-246+630C>A	ENSP00000417609.1:n.-246+630C>A
ENST00000610179.5:c.65C>A	ENSP00000477429.1:p.Ser22Ter
ENST00000610179.6:c.104C>A	ENSP00000477429.2:p.Ser35Ter
ENST00000643504.2:c.104C>A	ENSP00000495157.2:p.Ser35Ter
XM_005260836.3:c.-246+518C>A	XP_005260893.3:n.-246+518C>A
XM_005260836.4:c.-246+518C>A	XP_005260893.3:n.-246+518C>A
XM_011529364.1:c.434C>A	XP_011527666.1:p.Ser145Ter
XM_011529364.3:c.434C>A	XP_011527666.1:p.Ser145Ter
XM_011529365.1:c.434C>A	XP_011527667.1:p.Ser145Ter
XM_011529365.2:c.434C>A	XP_011527667.1:p.Ser145Ter
XM_017028079.2:c.-538+518C>A	XP_016883568.1:n.-538+518C>A
XM_024452002.1:c.-538+630C>A	XP_024307770.1:n.-538+630C>A
XR_002958533.1:n.595C>A