Canonical Allele Identifier: CA2135402

Gene: PAX3

Linked Data

• ClinVar Variation Id: 227834
• ClinVar RCV Id: RCV000221458
• dbSNP Id: rs757964568
• ExAC: 2:223066133 G / A
• gnomAD v2: 2-223066133-G-A
• gnomAD v3: 2-222201414-G-A
• gnomAD v4: 2-222201414-G-A
• MyVariant Identifiers: chr2:g.223066133G>A (hg19) ; chr2:g.222201414G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222201414G>A , CM000664.2:g.222201414G>A	GRCh38
NC_000002.11:g.223066133G>A , CM000664.1:g.223066133G>A	GRCh37
NC_000002.10:g.222774377G>A	NCBI36
NG_011632.1:g.102568C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1202C>T	ENSP00000338767.5:p.Ser401Leu
ENST00000344493.9:c.1202C>T	ENSP00000342092.4:p.Ser401Leu
ENST00000392070.7:c.1449C>T MANE Select	ENSP00000375922.3:p.Ile483=
ENST00000464706.6:n.887C>T
ENST00000644699.1:n.775C>T
ENST00000646154.1:n.1263C>T
ENST00000336840.10:c.1202C>T	ENSP00000338767.5:p.Ser401Leu
ENST00000344493.8:c.1202C>T	ENSP00000342092.4:p.Ser401Leu
ENST00000350526.8:c.*510C>T	ENSP00000343052.4:n.*510C>T
ENST00000392069.6:c.1449C>T	ENSP00000375921.2:p.Ile483=
ENST00000392070.6:c.1449C>T	ENSP00000375922.2:p.Ile483=
ENST00000409551.7:c.1446C>T	ENSP00000386750.3:p.Ile482=
NM_001127366.2:c.1446C>T	NP_001120838.1:p.Ile482=
NM_181458.3:c.1449C>T	NP_852123.1:p.Ile483=
NM_181459.3:c.1449C>T	NP_852124.1:p.Ile483=
NM_181460.3:c.1202C>T	NP_852125.1:p.Ser401Leu
NM_181461.3:c.1202C>T	NP_852126.1:p.Ser401Leu
XM_011511278.1:c.1593C>T	XP_011509580.1:p.Ile531=
XM_011511279.1:c.885C>T	XP_011509581.1:p.Ile295=
NM_001127366.3:c.1446C>T	NP_001120838.1:p.Ile482=
NM_181458.4:c.1449C>T MANE Select	NP_852123.1:p.Ile483=
NM_181459.4:c.1449C>T	NP_852124.1:p.Ile483=
NM_181460.4:c.1202C>T	NP_852125.1:p.Ser401Leu
NM_181461.4:c.1202C>T	NP_852126.1:p.Ser401Leu