Canonical Allele Identifier: CA351112953

Gene: PAX3

Linked Data

• dbSNP Id: rs1246737713
• gnomAD v2: 2-223096999-G-A
• gnomAD v4: 2-222232280-G-A
• COSMIC: COSM1306480 ; COSM4811205
• MyVariant Identifiers: chr2:g.223096999G>A (hg19) ; chr2:g.222232280G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222232280G>A , CM000664.2:g.222232280G>A	GRCh38
NC_000002.11:g.223096999G>A , CM000664.1:g.223096999G>A	GRCh37
NC_000002.10:g.222805243G>A	NCBI36
NG_011632.1:g.71702C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000336840.11:c.590C>T	ENSP00000338767.5:p.Ser197Leu
ENST00000344493.9:c.590C>T	ENSP00000342092.4:p.Ser197Leu
ENST00000350526.9:c.590C>T	ENSP00000343052.4:p.Ser197Leu
ENST00000392070.7:c.590C>T MANE Select	ENSP00000375922.3:p.Ser197Leu
ENST00000646154.1:n.404C>T
ENST00000336840.10:c.590C>T	ENSP00000338767.5:p.Ser197Leu
ENST00000344493.8:c.590C>T	ENSP00000342092.4:p.Ser197Leu
ENST00000350526.8:c.590C>T	ENSP00000343052.4:p.Ser197Leu
ENST00000392069.6:c.590C>T	ENSP00000375921.2:p.Ser197Leu
ENST00000392070.6:c.590C>T	ENSP00000375922.2:p.Ser197Leu
ENST00000409551.7:c.587C>T	ENSP00000386750.3:p.Ser196Leu
NM_001127366.2:c.587C>T	NP_001120838.1:p.Ser196Leu
NM_181457.3:c.590C>T	NP_852122.1:p.Ser197Leu
NM_181458.3:c.590C>T	NP_852123.1:p.Ser197Leu
NM_181459.3:c.590C>T	NP_852124.1:p.Ser197Leu
NM_181460.3:c.590C>T	NP_852125.1:p.Ser197Leu
NM_181461.3:c.590C>T	NP_852126.1:p.Ser197Leu
XM_011511278.1:c.734C>T	XP_011509580.1:p.Ser245Leu
XM_011511279.1:c.26C>T	XP_011509581.1:p.Ser9Leu
XR_923945.1:n.287+10310G>A
NM_001127366.3:c.587C>T	NP_001120838.1:p.Ser196Leu
NM_181457.4:c.590C>T	NP_852122.1:p.Ser197Leu
NM_181458.4:c.590C>T MANE Select	NP_852123.1:p.Ser197Leu
NM_181459.4:c.590C>T	NP_852124.1:p.Ser197Leu
NM_181460.4:c.590C>T	NP_852125.1:p.Ser197Leu
NM_181461.4:c.590C>T	NP_852126.1:p.Ser197Leu