Canonical Allele Identifier: CA1742009478
Gene: PAX4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.127613815C= , CM000669.2:g.127613815C= GRCh38
NC_000007.13:g.127253869C= , CM000669.1:g.127253869C= GRCh37
NC_000007.12:g.127041105C= NCBI36
NG_012848.1:g.6912G=

Transcript Alleles

HGVS Amino-acid change
ENST00000639438.3:c.503G= MANE Select ENSP00000491782.1:p.Gly168=
ENST00000338516.7:c.503G= ENSP00000344297.4:p.Gly168=
ENST00000341640.6:c.479G= ENSP00000339906.2:p.Gly160=
ENST00000378740.6:c.479G= ENSP00000368014.3:p.Gly160=
ENST00000463946.5:c.473G= ENSP00000451923.1:p.Gly158=
ENST00000477423.1:n.473G=
ENST00000483494.5:c.473G= ENSP00000473846.1:p.Gly158=
ENST00000611453.1:c.473G= ENSP00000477877.1:p.Gly158=
NM_006193.2:c.479G= NP_006184.2:p.Gly160=
XM_011516276.1:c.503G= XP_011514578.1:p.Gly168=
NM_001366110.1:c.503G= MANE Select NP_001353039.1:p.Gly168=
NM_001366111.1:c.503G= NP_001353040.1:p.Gly168=