Canonical Allele Identifier: CA4468020

Gene: PAX4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.127613497G>T , CM000669.2:g.127613497G>T	GRCh38
NC_000007.13:g.127253551G>T , CM000669.1:g.127253551G>T	GRCh37
NC_000007.12:g.127040787G>T	NCBI36
NG_012848.1:g.7230C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639438.3:c.598C>A MANE Select	ENSP00000491782.1:p.Arg200Ser
ENST00000338516.7:c.598C>A	ENSP00000344297.4:p.Arg200Ser
ENST00000341640.6:c.574C>A	ENSP00000339906.2:p.Arg192Ser
ENST00000378740.6:c.574C>A	ENSP00000368014.3:p.Arg192Ser
ENST00000463946.5:c.568C>A	ENSP00000451923.1:p.Arg190Ser
ENST00000477423.1:n.568C>A
ENST00000483494.5:c.568C>A	ENSP00000473846.1:p.Arg190Ser
ENST00000611453.1:c.568C>A	ENSP00000477877.1:p.Arg190Ser
NM_006193.2:c.574C>A	NP_006184.2:p.Arg192Ser
XM_011516276.1:c.598C>A	XP_011514578.1:p.Arg200Ser
NM_001366110.1:c.598C>A MANE Select	NP_001353039.1:p.Arg200Ser
NM_001366111.1:c.598C>A	NP_001353040.1:p.Arg200Ser