Canonical Allele Identifier: CA351116615

Gene: PAX3

Linked Data

• gnomAD v4: 2-222221318-G-A
• COSMIC: COSM5025850 ; COSM5025851
• MyVariant Identifiers: chr2:g.223086037G>A (hg19) ; chr2:g.222221318G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222221318G>A , CM000664.2:g.222221318G>A	GRCh38
NC_000002.11:g.223086037G>A , CM000664.1:g.223086037G>A	GRCh37
NC_000002.10:g.222794281G>A	NCBI36
NG_011632.1:g.82664C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.862C>T	ENSP00000338767.5:p.His288Tyr
ENST00000344493.9:c.862C>T	ENSP00000342092.4:p.His288Tyr
ENST00000350526.9:c.862C>T	ENSP00000343052.4:p.His288Tyr
ENST00000392070.7:c.862C>T MANE Select	ENSP00000375922.3:p.His288Tyr
ENST00000464706.6:n.300C>T
ENST00000644699.1:n.188C>T
ENST00000644937.1:n.134C>T
ENST00000646154.1:n.676C>T
ENST00000336840.10:c.862C>T	ENSP00000338767.5:p.His288Tyr
ENST00000344493.8:c.862C>T	ENSP00000342092.4:p.His288Tyr
ENST00000350526.8:c.862C>T	ENSP00000343052.4:p.His288Tyr
ENST00000392069.6:c.862C>T	ENSP00000375921.2:p.His288Tyr
ENST00000392070.6:c.862C>T	ENSP00000375922.2:p.His288Tyr
ENST00000409551.7:c.859C>T	ENSP00000386750.3:p.His287Tyr
ENST00000464706.5:n.286C>T
ENST00000555548.1:n.93C>T
NM_001127366.2:c.859C>T	NP_001120838.1:p.His287Tyr
NM_181457.3:c.862C>T	NP_852122.1:p.His288Tyr
NM_181458.3:c.862C>T	NP_852123.1:p.His288Tyr
NM_181459.3:c.862C>T	NP_852124.1:p.His288Tyr
NM_181460.3:c.862C>T	NP_852125.1:p.His288Tyr
NM_181461.3:c.862C>T	NP_852126.1:p.His288Tyr
XM_011511278.1:c.1006C>T	XP_011509580.1:p.His336Tyr
XM_011511279.1:c.298C>T	XP_011509581.1:p.His100Tyr
NM_001127366.3:c.859C>T	NP_001120838.1:p.His287Tyr
NM_181457.4:c.862C>T	NP_852122.1:p.His288Tyr
NM_181458.4:c.862C>T MANE Select	NP_852123.1:p.His288Tyr
NM_181459.4:c.862C>T	NP_852124.1:p.His288Tyr
NM_181460.4:c.862C>T	NP_852125.1:p.His288Tyr
NM_181461.4:c.862C>T	NP_852126.1:p.His288Tyr