Canonical Allele Identifier: CA2213066

Gene: PASK

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241126276C>T , CM000664.2:g.241126276C>T	GRCh38
NC_000002.11:g.242065691C>T , CM000664.1:g.242065691C>T	GRCh37
NC_000002.10:g.241714364C>T	NCBI36
NG_052850.1:g.29072G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234040.9:c.2639G>A MANE Select	ENSP00000234040.5:p.Arg880His
ENST00000234040.8:c.2639G>A	ENSP00000234040.4:p.Arg880His
ENST00000358649.8:c.2639G>A	ENSP00000351475.4:p.Arg880His
ENST00000403638.7:c.2639G>A	ENSP00000384438.3:p.Arg880His
ENST00000405260.5:c.2639G>A	ENSP00000384016.1:p.Arg880His
ENST00000493544.1:n.3072G>A
ENST00000544142.5:c.2639G>A	ENSP00000441374.2:p.Arg880His
NM_001252119.1:c.2639G>A	NP_001239048.1:p.Arg880His
NM_001252120.1:c.2639G>A	NP_001239049.1:p.Arg880His
NM_001252122.1:c.2534G>A	NP_001239051.1:p.Arg845His
NM_001252124.1:c.2639G>A	NP_001239053.1:p.Arg880His
NM_015148.3:c.2639G>A	NP_055963.2:p.Arg880His
XM_005246991.1:c.1991G>A	XP_005247048.1:p.Arg664His
XM_011510826.1:c.2714G>A	XP_011509128.1:p.Arg905His
XM_011510827.1:c.2714G>A	XP_011509129.1:p.Arg905His
XM_011510828.1:c.2639G>A	XP_011509130.1:p.Arg880His
XM_011510829.1:c.2639G>A	XP_011509131.1:p.Arg880His
XM_011510830.1:c.2639G>A	XP_011509132.1:p.Arg880His
XM_011510831.1:c.2081G>A	XP_011509133.1:p.Arg694His
XM_011510832.1:c.2081G>A	XP_011509134.1:p.Arg694His
XM_011510833.1:c.1991G>A	XP_011509135.1:p.Arg664His
XM_011510834.1:c.1481G>A	XP_011509136.1:p.Arg494His
XM_011510835.1:c.1268G>A	XP_011509137.1:p.Arg423His
XR_922893.1:n.2744G>A
XM_011510829.2:c.2639G>A	XP_011509131.1:p.Arg880His
XM_011510830.2:c.2639G>A	XP_011509132.1:p.Arg880His
XM_011510831.2:c.2081G>A	XP_011509133.1:p.Arg694His
XM_011510832.2:c.2081G>A	XP_011509134.1:p.Arg694His
XM_017003635.1:c.2639G>A	XP_016859124.1:p.Arg880His
XM_017003636.1:c.2639G>A	XP_016859125.1:p.Arg880His
XR_001738678.2:n.2764G>A
NM_001252119.2:c.2639G>A	NP_001239048.1:p.Arg880His
NM_001252122.2:c.2534G>A	NP_001239051.1:p.Arg845His
NM_001252124.2:c.2639G>A	NP_001239053.1:p.Arg880His
NM_015148.4:c.2639G>A MANE Select	NP_055963.2:p.Arg880His
NM_001252120.2:c.2639G>A	NP_001239049.1:p.Arg880His