Canonical Allele Identifier: CA431575702

Gene: PAX3

Linked Data

• dbSNP Id: rs1162329947
• gnomAD v3: 2-222232276-T-A
• gnomAD v4: 2-222232276-T-A
• MyVariant Identifiers: chr2:g.223096995T>A (hg19) ; chr2:g.222232276T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222232276T>A , CM000664.2:g.222232276T>A	GRCh38
NC_000002.11:g.223096995T>A , CM000664.1:g.223096995T>A	GRCh37
NC_000002.10:g.222805239T>A	NCBI36
NG_011632.1:g.71706A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000336840.11:c.594A>T	ENSP00000338767.5:p.Ala198=
ENST00000344493.9:c.594A>T	ENSP00000342092.4:p.Ala198=
ENST00000350526.9:c.594A>T	ENSP00000343052.4:p.Ala198=
ENST00000392070.7:c.594A>T MANE Select	ENSP00000375922.3:p.Ala198=
ENST00000646154.1:n.408A>T
ENST00000336840.10:c.594A>T	ENSP00000338767.5:p.Ala198=
ENST00000344493.8:c.594A>T	ENSP00000342092.4:p.Ala198=
ENST00000350526.8:c.594A>T	ENSP00000343052.4:p.Ala198=
ENST00000392069.6:c.594A>T	ENSP00000375921.2:p.Ala198=
ENST00000392070.6:c.594A>T	ENSP00000375922.2:p.Ala198=
ENST00000409551.7:c.591A>T	ENSP00000386750.3:p.Ala197=
NM_001127366.2:c.591A>T	NP_001120838.1:p.Ala197=
NM_181457.3:c.594A>T	NP_852122.1:p.Ala198=
NM_181458.3:c.594A>T	NP_852123.1:p.Ala198=
NM_181459.3:c.594A>T	NP_852124.1:p.Ala198=
NM_181460.3:c.594A>T	NP_852125.1:p.Ala198=
NM_181461.3:c.594A>T	NP_852126.1:p.Ala198=
XM_011511278.1:c.738A>T	XP_011509580.1:p.Ala246=
XM_011511279.1:c.30A>T	XP_011509581.1:p.Ala10=
XR_923945.1:n.287+10306T>A
NM_001127366.3:c.591A>T	NP_001120838.1:p.Ala197=
NM_181457.4:c.594A>T	NP_852122.1:p.Ala198=
NM_181458.4:c.594A>T MANE Select	NP_852123.1:p.Ala198=
NM_181459.4:c.594A>T	NP_852124.1:p.Ala198=
NM_181460.4:c.594A>T	NP_852125.1:p.Ala198=
NM_181461.4:c.594A>T	NP_852126.1:p.Ala198=