Canonical Allele Identifier: CA369175367

Gene: PAX4

Linked Data

• gnomAD v4: 7-127614535-A-G
• MyVariant Identifiers: chr7:g.127254589A>G (hg19) ; chr7:g.127614535A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.127614535A>G , CM000669.2:g.127614535A>G	GRCh38
NC_000007.13:g.127254589A>G , CM000669.1:g.127254589A>G	GRCh37
NC_000007.12:g.127041825A>G	NCBI36
NG_012848.1:g.6192T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639438.3:c.383T>C MANE Select	ENSP00000491782.1:p.Leu128Pro
ENST00000338516.7:c.383T>C	ENSP00000344297.4:p.Leu128Pro
ENST00000341640.6:c.359T>C	ENSP00000339906.2:p.Leu120Pro
ENST00000378740.6:c.359T>C	ENSP00000368014.3:p.Leu120Pro
ENST00000463946.5:c.353T>C	ENSP00000451923.1:p.Leu118Pro
ENST00000477423.1:n.353T>C
ENST00000483494.5:c.353T>C	ENSP00000473846.1:p.Leu118Pro
ENST00000611453.1:c.353T>C	ENSP00000477877.1:p.Leu118Pro
NM_006193.2:c.359T>C	NP_006184.2:p.Leu120Pro
XM_011516276.1:c.383T>C	XP_011514578.1:p.Leu128Pro
NM_001366110.1:c.383T>C MANE Select	NP_001353039.1:p.Leu128Pro
NM_001366111.1:c.383T>C	NP_001353040.1:p.Leu128Pro