Canonical Allele Identifier: CA457524957
Gene: PAX4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.127253862G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.127613808G>C , CM000669.2:g.127613808G>C GRCh38
NC_000007.13:g.127253862G>C , CM000669.1:g.127253862G>C GRCh37
NC_000007.12:g.127041098G>C NCBI36
NG_012848.1:g.6919C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000639438.3:c.510C>G MANE Select ENSP00000491782.1:p.Gly170=
ENST00000338516.7:c.510C>G ENSP00000344297.4:p.Gly170=
ENST00000341640.6:c.486C>G ENSP00000339906.2:p.Gly162=
ENST00000378740.6:c.486C>G ENSP00000368014.3:p.Gly162=
ENST00000463946.5:c.480C>G ENSP00000451923.1:p.Gly160=
ENST00000477423.1:n.480C>G
ENST00000483494.5:c.480C>G ENSP00000473846.1:p.Gly160=
ENST00000611453.1:c.480C>G ENSP00000477877.1:p.Gly160=
NM_006193.2:c.486C>G NP_006184.2:p.Gly162=
XM_011516276.1:c.510C>G XP_011514578.1:p.Gly170=
NM_001366110.1:c.510C>G MANE Select NP_001353039.1:p.Gly170=
NM_001366111.1:c.510C>G NP_001353040.1:p.Gly170=