Canonical Allele Identifier: CA288340

Gene: PALLD

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.168668321C>T , CM000666.2:g.168668321C>T	GRCh38
NC_000004.11:g.169589472C>T , CM000666.1:g.169589472C>T	GRCh37
NC_000004.10:g.169826047C>T	NCBI36
NG_013376.1:g.176256C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001166108.2:c.1040C>T MANE Select	NP_001159580.1:p.Thr347Met
ENST00000505667.6:c.1040C>T MANE Select	ENSP00000425556.1:p.Thr347Met
NM_001166108.1:c.1040C>T	NP_001159580.1:p.Thr347Met
NM_001166109.1:c.-107C>T	NP_001159581.1:n.-107C>T
NM_001166109.2:c.-107C>T	NP_001159581.1:n.-107C>T
NM_016081.3:c.1040C>T	NP_057165.3:p.Thr347Met
NM_016081.4:c.1040C>T	NP_057165.3:p.Thr347Met
ENST00000261509.10:c.1040C>T	ENSP00000261509.6:p.Thr347Met
ENST00000503457.1:c.-107C>T	ENSP00000424288.1:n.-107C>T
ENST00000504519.5:c.-208-9579C>T	ENSP00000424121.1:n.-208-9579C>T
ENST00000505667.5:c.1040C>T	ENSP00000425556.1:p.Thr347Met
ENST00000508898.5:c.977C>T	ENSP00000423063.1:p.Thr326Met
ENST00000512127.5:c.-107C>T	ENSP00000426947.1:n.-107C>T
ENST00000513245.5:c.-107C>T	ENSP00000422016.1:n.-107C>T
XM_005262861.3:c.1040C>T	XP_005262918.1:p.Thr347Met
XM_005262861.4:c.1040C>T	XP_005262918.1:p.Thr347Met
XM_005262866.2:c.-107C>T	XP_005262923.1:n.-107C>T
XM_011531768.1:c.1244C>T	XP_011530070.1:p.Thr415Met
XM_011531768.2:c.1244C>T	XP_011530070.1:p.Thr415Met
XM_011531769.1:c.1244C>T	XP_011530071.1:p.Thr415Met
XM_011531769.2:c.1244C>T	XP_011530071.1:p.Thr415Met
XM_011531770.1:c.1244C>T	XP_011530072.1:p.Thr415Met
XM_011531770.2:c.1244C>T	XP_011530072.1:p.Thr415Met
XM_011531771.1:c.1244C>T	XP_011530073.1:p.Thr415Met
XM_011531771.2:c.1244C>T	XP_011530073.1:p.Thr415Met
XM_011531772.1:c.1244C>T	XP_011530074.1:p.Thr415Met
XM_011531772.2:c.1244C>T	XP_011530074.1:p.Thr415Met
XM_011531773.1:c.1244C>T	XP_011530075.1:p.Thr415Met
XM_011531774.1:c.1244C>T	XP_011530076.1:p.Thr415Met
XM_011531775.1:c.-107C>T	XP_011530077.1:n.-107C>T
XM_011531776.1:c.-107C>T	XP_011530078.1:n.-107C>T
XM_017007910.1:c.1244C>T	XP_016863399.1:p.Thr415Met
XM_017007911.1:c.1244C>T	XP_016863400.1:p.Thr415Met
XM_024453939.1:c.-107C>T	XP_024309707.1:n.-107C>T
XR_939428.1:n.493+1340G>A