Canonical Allele Identifier: CA457525084

Gene: PAX4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.127615412G>T , CM000669.2:g.127615412G>T	GRCh38
NC_000007.13:g.127255466G>T , CM000669.1:g.127255466G>T	GRCh37
NC_000007.12:g.127042702G>T	NCBI36
NG_012848.1:g.5315C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001366110.1:c.133C>A MANE Select	NP_001353039.1:p.Arg45=
ENST00000639438.3:c.133C>A MANE Select	ENSP00000491782.1:p.Arg45=
NM_001366111.1:c.133C>A	NP_001353040.1:p.Arg45=
NM_006193.2:c.109C>A	NP_006184.2:p.Arg37=
ENST00000338516.7:c.133C>A	ENSP00000344297.4:p.Arg45=
ENST00000341640.6:c.109C>A	ENSP00000339906.2:p.Arg37=
ENST00000378740.6:c.109C>A	ENSP00000368014.3:p.Arg37=
ENST00000463946.5:c.-203C>A	ENSP00000451923.1:n.-203C>A
ENST00000483494.5:c.-203C>A	ENSP00000473846.1:n.-203C>A
ENST00000611453.1:c.-203C>A	ENSP00000477877.1:n.-203C>A
XM_011516276.1:c.133C>A	XP_011514578.1:p.Arg45=