Canonical Allele Identifier: CA369175390

Gene: PAX4

Linked Data

• dbSNP Id: rs1344240785
• gnomAD v2: 7-127254593-C-T
• MyVariant Identifiers: chr7:g.127254593C>T (hg19) ; chr7:g.127614539C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000639438.3:c.379G>A MANE Select	ENSP00000491782.1:p.Val127Ile
ENST00000338516.7:c.379G>A	ENSP00000344297.4:p.Val127Ile
ENST00000341640.6:c.355G>A	ENSP00000339906.2:p.Val119Ile
ENST00000378740.6:c.355G>A	ENSP00000368014.3:p.Val119Ile
ENST00000463946.5:c.349G>A	ENSP00000451923.1:p.Val117Ile
ENST00000477423.1:n.349G>A
ENST00000483494.5:c.349G>A	ENSP00000473846.1:p.Val117Ile
ENST00000611453.1:c.349G>A	ENSP00000477877.1:p.Val117Ile
NM_006193.2:c.355G>A	NP_006184.2:p.Val119Ile
XM_011516276.1:c.379G>A	XP_011514578.1:p.Val127Ile
NM_001366110.1:c.379G>A MANE Select	NP_001353039.1:p.Val127Ile
NM_001366111.1:c.379G>A	NP_001353040.1:p.Val127Ile