Canonical Allele Identifier: CA351115558

Gene: PAX3

Linked Data

• dbSNP Id: rs1691311757
• gnomAD v4: 2-222202013-G-A
• MyVariant Identifiers: chr2:g.223066732G>A (hg19) ; chr2:g.222202013G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222202013G>A , CM000664.2:g.222202013G>A	GRCh38
NC_000002.11:g.223066732G>A , CM000664.1:g.223066732G>A	GRCh37
NC_000002.10:g.222774976G>A	NCBI36
NG_011632.1:g.101969C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-571C>T	ENSP00000338767.5:n.1174-571C>T
ENST00000344493.9:c.1174-571C>T	ENSP00000342092.4:n.1174-571C>T
ENST00000350526.9:c.1351C>T	ENSP00000343052.4:p.Pro451Ser
ENST00000392070.7:c.1351C>T MANE Select	ENSP00000375922.3:p.Pro451Ser
ENST00000464706.6:n.789C>T
ENST00000644699.1:n.677C>T
ENST00000646154.1:n.1165C>T
ENST00000336840.10:c.1174-571C>T	ENSP00000338767.5:n.1174-571C>T
ENST00000344493.8:c.1174-571C>T	ENSP00000342092.4:n.1174-571C>T
ENST00000350526.8:c.1351C>T	ENSP00000343052.4:p.Pro451Ser
ENST00000392069.6:c.1351C>T	ENSP00000375921.2:p.Pro451Ser
ENST00000392070.6:c.1351C>T	ENSP00000375922.2:p.Pro451Ser
ENST00000409551.7:c.1348C>T	ENSP00000386750.3:p.Pro450Ser
ENST00000464706.5:n.775C>T
NM_001127366.2:c.1348C>T	NP_001120838.1:p.Pro450Ser
NM_181457.3:c.1351C>T	NP_852122.1:p.Pro451Ser
NM_181458.3:c.1351C>T	NP_852123.1:p.Pro451Ser
NM_181459.3:c.1351C>T	NP_852124.1:p.Pro451Ser
NM_181460.3:c.1174-571C>T	NP_852125.1:n.1174-571C>T
NM_181461.3:c.1174-571C>T	NP_852126.1:n.1174-571C>T
XM_011511278.1:c.1495C>T	XP_011509580.1:p.Pro499Ser
XM_011511279.1:c.787C>T	XP_011509581.1:p.Pro263Ser
NM_001127366.3:c.1348C>T	NP_001120838.1:p.Pro450Ser
NM_181457.4:c.1351C>T	NP_852122.1:p.Pro451Ser
NM_181458.4:c.1351C>T MANE Select	NP_852123.1:p.Pro451Ser
NM_181459.4:c.1351C>T	NP_852124.1:p.Pro451Ser
NM_181460.4:c.1174-571C>T	NP_852125.1:n.1174-571C>T
NM_181461.4:c.1174-571C>T	NP_852126.1:n.1174-571C>T