Canonical Allele Identifier: CA539836844

Gene: PAX3

Linked Data

• dbSNP Id: rs1369253301
• gnomAD v2: 2-223066961-T-C
• MyVariant Identifiers: chr2:g.223066961T>C (hg19) ; chr2:g.222202242T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222202242T>C , CM000664.2:g.222202242T>C	GRCh38
NC_000002.11:g.223066961T>C , CM000664.1:g.223066961T>C	GRCh37
NC_000002.10:g.222775205T>C	NCBI36
NG_011632.1:g.101740A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-800A>G	ENSP00000338767.5:n.1174-800A>G
ENST00000344493.9:c.1174-800A>G	ENSP00000342092.4:n.1174-800A>G
ENST00000350526.9:c.1174-52A>G	ENSP00000343052.4:n.1174-52A>G
ENST00000392070.7:c.1174-52A>G MANE Select	ENSP00000375922.3:n.1174-52A>G
ENST00000464706.6:n.612-52A>G
ENST00000644699.1:n.500-52A>G
ENST00000646154.1:n.988-52A>G
ENST00000336840.10:c.1174-800A>G	ENSP00000338767.5:n.1174-800A>G
ENST00000344493.8:c.1174-800A>G	ENSP00000342092.4:n.1174-800A>G
ENST00000350526.8:c.1174-52A>G	ENSP00000343052.4:n.1174-52A>G
ENST00000392069.6:c.1174-52A>G	ENSP00000375921.2:n.1174-52A>G
ENST00000392070.6:c.1174-52A>G	ENSP00000375922.2:n.1174-52A>G
ENST00000409551.7:c.1171-52A>G	ENSP00000386750.3:n.1171-52A>G
ENST00000464706.5:n.598-52A>G
ENST00000555548.1:n.405-52A>G
NM_001127366.2:c.1171-52A>G	NP_001120838.1:n.1171-52A>G
NM_181457.3:c.1174-52A>G	NP_852122.1:n.1174-52A>G
NM_181458.3:c.1174-52A>G	NP_852123.1:n.1174-52A>G
NM_181459.3:c.1174-52A>G	NP_852124.1:n.1174-52A>G
NM_181460.3:c.1174-800A>G	NP_852125.1:n.1174-800A>G
NM_181461.3:c.1174-800A>G	NP_852126.1:n.1174-800A>G
XM_011511278.1:c.1318-52A>G	XP_011509580.1:n.1318-52A>G
XM_011511279.1:c.610-52A>G	XP_011509581.1:n.610-52A>G
NM_001127366.3:c.1171-52A>G	NP_001120838.1:n.1171-52A>G
NM_181457.4:c.1174-52A>G	NP_852122.1:n.1174-52A>G
NM_181458.4:c.1174-52A>G MANE Select	NP_852123.1:n.1174-52A>G
NM_181459.4:c.1174-52A>G	NP_852124.1:n.1174-52A>G
NM_181460.4:c.1174-800A>G	NP_852125.1:n.1174-800A>G
NM_181461.4:c.1174-800A>G	NP_852126.1:n.1174-800A>G