Canonical Allele Identifier: CA351115450

Gene: PAX3

Linked Data

• MyVariant Identifiers: chr2:g.223066683T>A (hg19) ; chr2:g.222201964T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222201964T>A , CM000664.2:g.222201964T>A	GRCh38
NC_000002.11:g.223066683T>A , CM000664.1:g.223066683T>A	GRCh37
NC_000002.10:g.222774927T>A	NCBI36
NG_011632.1:g.102018A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-522A>T	ENSP00000338767.5:n.1174-522A>T
ENST00000344493.9:c.1174-522A>T	ENSP00000342092.4:n.1174-522A>T
ENST00000350526.9:c.1400A>T	ENSP00000343052.4:p.Gln467Leu
ENST00000392070.7:c.1400A>T MANE Select	ENSP00000375922.3:p.Gln467Leu
ENST00000464706.6:n.838A>T
ENST00000644699.1:n.726A>T
ENST00000646154.1:n.1214A>T
ENST00000336840.10:c.1174-522A>T	ENSP00000338767.5:n.1174-522A>T
ENST00000344493.8:c.1174-522A>T	ENSP00000342092.4:n.1174-522A>T
ENST00000350526.8:c.1400A>T	ENSP00000343052.4:p.Gln467Leu
ENST00000392069.6:c.1400A>T	ENSP00000375921.2:p.Gln467Leu
ENST00000392070.6:c.1400A>T	ENSP00000375922.2:p.Gln467Leu
ENST00000409551.7:c.1397A>T	ENSP00000386750.3:p.Gln466Leu
NM_001127366.2:c.1397A>T	NP_001120838.1:p.Gln466Leu
NM_181457.3:c.1400A>T	NP_852122.1:p.Gln467Leu
NM_181458.3:c.1400A>T	NP_852123.1:p.Gln467Leu
NM_181459.3:c.1400A>T	NP_852124.1:p.Gln467Leu
NM_181460.3:c.1174-522A>T	NP_852125.1:n.1174-522A>T
NM_181461.3:c.1174-522A>T	NP_852126.1:n.1174-522A>T
XM_011511278.1:c.1544A>T	XP_011509580.1:p.Gln515Leu
XM_011511279.1:c.836A>T	XP_011509581.1:p.Gln279Leu
NM_001127366.3:c.1397A>T	NP_001120838.1:p.Gln466Leu
NM_181457.4:c.1400A>T	NP_852122.1:p.Gln467Leu
NM_181458.4:c.1400A>T MANE Select	NP_852123.1:p.Gln467Leu
NM_181459.4:c.1400A>T	NP_852124.1:p.Gln467Leu
NM_181460.4:c.1174-522A>T	NP_852125.1:n.1174-522A>T
NM_181461.4:c.1174-522A>T	NP_852126.1:n.1174-522A>T