Canonical Allele Identifier: CA351115485

Gene: PAX3

Linked Data

• dbSNP Id: rs1443972658
• gnomAD v2: 2-223066699-G-C
• gnomAD v4: 2-222201980-G-C
• MyVariant Identifiers: chr2:g.223066699G>C (hg19) ; chr2:g.222201980G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222201980G>C , CM000664.2:g.222201980G>C	GRCh38
NC_000002.11:g.223066699G>C , CM000664.1:g.223066699G>C	GRCh37
NC_000002.10:g.222774943G>C	NCBI36
NG_011632.1:g.102002C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-538C>G	ENSP00000338767.5:n.1174-538C>G
ENST00000344493.9:c.1174-538C>G	ENSP00000342092.4:n.1174-538C>G
ENST00000350526.9:c.1384C>G	ENSP00000343052.4:p.Pro462Ala
ENST00000392070.7:c.1384C>G MANE Select	ENSP00000375922.3:p.Pro462Ala
ENST00000464706.6:n.822C>G
ENST00000644699.1:n.710C>G
ENST00000646154.1:n.1198C>G
ENST00000336840.10:c.1174-538C>G	ENSP00000338767.5:n.1174-538C>G
ENST00000344493.8:c.1174-538C>G	ENSP00000342092.4:n.1174-538C>G
ENST00000350526.8:c.1384C>G	ENSP00000343052.4:p.Pro462Ala
ENST00000392069.6:c.1384C>G	ENSP00000375921.2:p.Pro462Ala
ENST00000392070.6:c.1384C>G	ENSP00000375922.2:p.Pro462Ala
ENST00000409551.7:c.1381C>G	ENSP00000386750.3:p.Pro461Ala
ENST00000464706.5:n.808C>G
NM_001127366.2:c.1381C>G	NP_001120838.1:p.Pro461Ala
NM_181457.3:c.1384C>G	NP_852122.1:p.Pro462Ala
NM_181458.3:c.1384C>G	NP_852123.1:p.Pro462Ala
NM_181459.3:c.1384C>G	NP_852124.1:p.Pro462Ala
NM_181460.3:c.1174-538C>G	NP_852125.1:n.1174-538C>G
NM_181461.3:c.1174-538C>G	NP_852126.1:n.1174-538C>G
XM_011511278.1:c.1528C>G	XP_011509580.1:p.Pro510Ala
XM_011511279.1:c.820C>G	XP_011509581.1:p.Pro274Ala
NM_001127366.3:c.1381C>G	NP_001120838.1:p.Pro461Ala
NM_181457.4:c.1384C>G	NP_852122.1:p.Pro462Ala
NM_181458.4:c.1384C>G MANE Select	NP_852123.1:p.Pro462Ala
NM_181459.4:c.1384C>G	NP_852124.1:p.Pro462Ala
NM_181460.4:c.1174-538C>G	NP_852125.1:n.1174-538C>G
NM_181461.4:c.1174-538C>G	NP_852126.1:n.1174-538C>G