Canonical Allele Identifier: CA1742010037

Gene: PAX4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.127614539C= , CM000669.2:g.127614539C=	GRCh38
NC_000007.13:g.127254593C= , CM000669.1:g.127254593C=	GRCh37
NC_000007.12:g.127041829C=	NCBI36
NG_012848.1:g.6188G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639438.3:c.379G= MANE Select	ENSP00000491782.1:p.Val127=
ENST00000338516.7:c.379G=	ENSP00000344297.4:p.Val127=
ENST00000341640.6:c.355G=	ENSP00000339906.2:p.Val119=
ENST00000378740.6:c.355G=	ENSP00000368014.3:p.Val119=
ENST00000463946.5:c.349G=	ENSP00000451923.1:p.Val117=
ENST00000477423.1:n.349G=
ENST00000483494.5:c.349G=	ENSP00000473846.1:p.Val117=
ENST00000611453.1:c.349G=	ENSP00000477877.1:p.Val117=
NM_006193.2:c.355G=	NP_006184.2:p.Val119=
XM_011516276.1:c.379G=	XP_011514578.1:p.Val127=
NM_001366110.1:c.379G= MANE Select	NP_001353039.1:p.Val127=
NM_001366111.1:c.379G=	NP_001353040.1:p.Val127=