Canonical Allele Identifier: CA1042706044

Gene: PAX3

Linked Data

• dbSNP Id: rs1691304774
• gnomAD v3: 2-222201850-G-A
• gnomAD v4: 2-222201850-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222201850G>A , CM000664.2:g.222201850G>A	GRCh38
NC_000002.11:g.223066569G>A , CM000664.1:g.223066569G>A	GRCh37
NC_000002.10:g.222774813G>A	NCBI36
NG_011632.1:g.102132C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-408C>T	ENSP00000338767.5:n.1174-408C>T
ENST00000344493.9:c.1174-408C>T	ENSP00000342092.4:n.1174-408C>T
ENST00000350526.9:c.*74C>T	ENSP00000343052.4:n.*74C>T
ENST00000392070.7:c.1420+94C>T MANE Select	ENSP00000375922.3:n.1420+94C>T
ENST00000464706.6:n.858+94C>T
ENST00000644699.1:n.746+94C>T
ENST00000646154.1:n.1234+94C>T
ENST00000336840.10:c.1174-408C>T	ENSP00000338767.5:n.1174-408C>T
ENST00000344493.8:c.1174-408C>T	ENSP00000342092.4:n.1174-408C>T
ENST00000350526.8:c.*74C>T	ENSP00000343052.4:n.*74C>T
ENST00000392069.6:c.1420+94C>T	ENSP00000375921.2:n.1420+94C>T
ENST00000392070.6:c.1420+94C>T	ENSP00000375922.2:n.1420+94C>T
ENST00000409551.7:c.1417+94C>T	ENSP00000386750.3:n.1417+94C>T
NM_001127366.2:c.1417+94C>T	NP_001120838.1:n.1417+94C>T
NM_181457.3:c.*74C>T	NP_852122.1:n.*74C>T
NM_181458.3:c.1420+94C>T	NP_852123.1:n.1420+94C>T
NM_181459.3:c.1420+94C>T	NP_852124.1:n.1420+94C>T
NM_181460.3:c.1174-408C>T	NP_852125.1:n.1174-408C>T
NM_181461.3:c.1174-408C>T	NP_852126.1:n.1174-408C>T
XM_011511278.1:c.1564+94C>T	XP_011509580.1:n.1564+94C>T
XM_011511279.1:c.856+94C>T	XP_011509581.1:n.856+94C>T
NM_001127366.3:c.1417+94C>T	NP_001120838.1:n.1417+94C>T
NM_181457.4:c.*74C>T	NP_852122.1:n.*74C>T
NM_181458.4:c.1420+94C>T MANE Select	NP_852123.1:n.1420+94C>T
NM_181459.4:c.1420+94C>T	NP_852124.1:n.1420+94C>T
NM_181460.4:c.1174-408C>T	NP_852125.1:n.1174-408C>T
NM_181461.4:c.1174-408C>T	NP_852126.1:n.1174-408C>T