Canonical Allele Identifier: CA431668598

Gene: PAX3

Linked Data

• dbSNP Id: rs1691310293
• gnomAD v4: 2-222201990-G-A
• MyVariant Identifiers: chr2:g.223066709G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222201990G>A , CM000664.2:g.222201990G>A	GRCh38
NC_000002.11:g.223066709G>A , CM000664.1:g.223066709G>A	GRCh37
NC_000002.10:g.222774953G>A	NCBI36
NG_011632.1:g.101992C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-548C>T	ENSP00000338767.5:n.1174-548C>T
ENST00000344493.9:c.1174-548C>T	ENSP00000342092.4:n.1174-548C>T
ENST00000350526.9:c.1374C>T	ENSP00000343052.4:p.Tyr458=
ENST00000392070.7:c.1374C>T MANE Select	ENSP00000375922.3:p.Tyr458=
ENST00000464706.6:n.812C>T
ENST00000644699.1:n.700C>T
ENST00000646154.1:n.1188C>T
ENST00000336840.10:c.1174-548C>T	ENSP00000338767.5:n.1174-548C>T
ENST00000344493.8:c.1174-548C>T	ENSP00000342092.4:n.1174-548C>T
ENST00000350526.8:c.1374C>T	ENSP00000343052.4:p.Tyr458=
ENST00000392069.6:c.1374C>T	ENSP00000375921.2:p.Tyr458=
ENST00000392070.6:c.1374C>T	ENSP00000375922.2:p.Tyr458=
ENST00000409551.7:c.1371C>T	ENSP00000386750.3:p.Tyr457=
ENST00000464706.5:n.798C>T
NM_001127366.2:c.1371C>T	NP_001120838.1:p.Tyr457=
NM_181457.3:c.1374C>T	NP_852122.1:p.Tyr458=
NM_181458.3:c.1374C>T	NP_852123.1:p.Tyr458=
NM_181459.3:c.1374C>T	NP_852124.1:p.Tyr458=
NM_181460.3:c.1174-548C>T	NP_852125.1:n.1174-548C>T
NM_181461.3:c.1174-548C>T	NP_852126.1:n.1174-548C>T
XM_011511278.1:c.1518C>T	XP_011509580.1:p.Tyr506=
XM_011511279.1:c.810C>T	XP_011509581.1:p.Tyr270=
NM_001127366.3:c.1371C>T	NP_001120838.1:p.Tyr457=
NM_181457.4:c.1374C>T	NP_852122.1:p.Tyr458=
NM_181458.4:c.1374C>T MANE Select	NP_852123.1:p.Tyr458=
NM_181459.4:c.1374C>T	NP_852124.1:p.Tyr458=
NM_181460.4:c.1174-548C>T	NP_852125.1:n.1174-548C>T
NM_181461.4:c.1174-548C>T	NP_852126.1:n.1174-548C>T