Canonical Allele Identifier: CA369174448

Gene: PAX4

Linked Data

• MyVariant Identifiers: chr7:g.127253860T>A (hg19) ; chr7:g.127613806T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.127613806T>A , CM000669.2:g.127613806T>A	GRCh38
NC_000007.13:g.127253860T>A , CM000669.1:g.127253860T>A	GRCh37
NC_000007.12:g.127041096T>A	NCBI36
NG_012848.1:g.6921A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000639438.3:c.512A>T MANE Select	ENSP00000491782.1:p.His171Leu
ENST00000338516.7:c.512A>T	ENSP00000344297.4:p.His171Leu
ENST00000341640.6:c.488A>T	ENSP00000339906.2:p.His163Leu
ENST00000378740.6:c.488A>T	ENSP00000368014.3:p.His163Leu
ENST00000463946.5:c.482A>T	ENSP00000451923.1:p.His161Leu
ENST00000477423.1:n.482A>T
ENST00000483494.5:c.482A>T	ENSP00000473846.1:p.His161Leu
ENST00000611453.1:c.482A>T	ENSP00000477877.1:p.His161Leu
NM_006193.2:c.488A>T	NP_006184.2:p.His163Leu
XM_011516276.1:c.512A>T	XP_011514578.1:p.His171Leu
NM_001366110.1:c.512A>T MANE Select	NP_001353039.1:p.His171Leu
NM_001366111.1:c.512A>T	NP_001353040.1:p.His171Leu