Canonical Allele Identifier: CA509565720
Community Standard Title: NC_000020.11:g.3889259C>T
Gene: PANK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3889259C>T , CM000682.2:g.3889259C>T GRCh38
NC_000020.10:g.3869906C>T , CM000682.1:g.3869906C>T GRCh37
NC_000020.9:g.3817906C>T NCBI36
NG_008131.3:g.5421C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001324191.1:c.-883C>T NP_001311120.1:n.-883C>T
NM_001324192.1:c.159C>T NP_001311121.1:p.Gly53=
NM_024960.4:c.-246+355C>T NP_079236.3:n.-246+355C>T
NM_024960.5:c.-246+355C>T NP_079236.3:n.-246+355C>T
NM_024960.6:c.-246+355C>T NP_079236.3:n.-246+355C>T
NM_153638.2:c.159C>T NP_705902.2:p.Gly53=
NM_153638.3:c.159C>T NP_705902.2:p.Gly53=
NM_153638.4:c.159C>T NP_705902.2:p.Gly53=
NR_136715.1:n.326C>T
ENST00000316562.8:c.159C>T ENSP00000313377.4:p.Gly53=
ENST00000316562.9:c.159C>T ENSP00000313377.4:p.Gly53=
ENST00000495692.5:c.-538+243C>T ENSP00000476745.1:n.-538+243C>T
ENST00000497424.5:c.-246+355C>T ENSP00000417609.1:n.-246+355C>T
XM_005260836.3:c.-246+243C>T XP_005260893.3:n.-246+243C>T
XM_005260836.4:c.-246+243C>T XP_005260893.3:n.-246+243C>T
XM_011529364.1:c.159C>T XP_011527666.1:p.Gly53=
XM_011529364.3:c.159C>T XP_011527666.1:p.Gly53=
XM_011529365.1:c.159C>T XP_011527667.1:p.Gly53=
XM_011529365.2:c.159C>T XP_011527667.1:p.Gly53=
XM_017028079.2:c.-538+243C>T XP_016883568.1:n.-538+243C>T
XM_024452002.1:c.-538+355C>T XP_024307770.1:n.-538+355C>T
XR_002958533.1:n.320C>T