Canonical Allele Identifier: CA369175361

Gene: PAX4

Linked Data

• gnomAD v4: 7-127614533-G-C
• MyVariant Identifiers: chr7:g.127254587G>C (hg19) ; chr7:g.127614533G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.127614533G>C , CM000669.2:g.127614533G>C	GRCh38
NC_000007.13:g.127254587G>C , CM000669.1:g.127254587G>C	GRCh37
NC_000007.12:g.127041823G>C	NCBI36
NG_012848.1:g.6194C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639438.3:c.385C>G MANE Select	ENSP00000491782.1:p.Arg129Gly
ENST00000338516.7:c.385C>G	ENSP00000344297.4:p.Arg129Gly
ENST00000341640.6:c.361C>G	ENSP00000339906.2:p.Arg121Gly
ENST00000378740.6:c.361C>G	ENSP00000368014.3:p.Arg121Gly
ENST00000463946.5:c.355C>G	ENSP00000451923.1:p.Arg119Gly
ENST00000477423.1:n.355C>G
ENST00000483494.5:c.355C>G	ENSP00000473846.1:p.Arg119Gly
ENST00000611453.1:c.355C>G	ENSP00000477877.1:p.Arg119Gly
NM_006193.2:c.361C>G	NP_006184.2:p.Arg121Gly
XM_011516276.1:c.385C>G	XP_011514578.1:p.Arg129Gly
NM_001366110.1:c.385C>G MANE Select	NP_001353039.1:p.Arg129Gly
NM_001366111.1:c.385C>G	NP_001353040.1:p.Arg129Gly