Canonical Allele Identifier: CA2135418

Gene: PAX3

Linked Data

• dbSNP Id: rs753228919
• ExAC: 2:223066592 C / T
• gnomAD v2: 2-223066592-C-T
• gnomAD v4: 2-222201873-C-T
• MyVariant Identifiers: chr2:g.223066592C>T (hg19) ; chr2:g.222201873C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222201873C>T , CM000664.2:g.222201873C>T	GRCh38
NC_000002.11:g.223066592C>T , CM000664.1:g.223066592C>T	GRCh37
NC_000002.10:g.222774836C>T	NCBI36
NG_011632.1:g.102109G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-431G>A	ENSP00000338767.5:n.1174-431G>A
ENST00000344493.9:c.1174-431G>A	ENSP00000342092.4:n.1174-431G>A
ENST00000350526.9:c.*51G>A	ENSP00000343052.4:n.*51G>A
ENST00000392070.7:c.1420+71G>A MANE Select	ENSP00000375922.3:n.1420+71G>A
ENST00000464706.6:n.858+71G>A
ENST00000644699.1:n.746+71G>A
ENST00000646154.1:n.1234+71G>A
ENST00000336840.10:c.1174-431G>A	ENSP00000338767.5:n.1174-431G>A
ENST00000344493.8:c.1174-431G>A	ENSP00000342092.4:n.1174-431G>A
ENST00000350526.8:c.*51G>A	ENSP00000343052.4:n.*51G>A
ENST00000392069.6:c.1420+71G>A	ENSP00000375921.2:n.1420+71G>A
ENST00000392070.6:c.1420+71G>A	ENSP00000375922.2:n.1420+71G>A
ENST00000409551.7:c.1417+71G>A	ENSP00000386750.3:n.1417+71G>A
NM_001127366.2:c.1417+71G>A	NP_001120838.1:n.1417+71G>A
NM_181457.3:c.*51G>A	NP_852122.1:n.*51G>A
NM_181458.3:c.1420+71G>A	NP_852123.1:n.1420+71G>A
NM_181459.3:c.1420+71G>A	NP_852124.1:n.1420+71G>A
NM_181460.3:c.1174-431G>A	NP_852125.1:n.1174-431G>A
NM_181461.3:c.1174-431G>A	NP_852126.1:n.1174-431G>A
XM_011511278.1:c.1564+71G>A	XP_011509580.1:n.1564+71G>A
XM_011511279.1:c.856+71G>A	XP_011509581.1:n.856+71G>A
NM_001127366.3:c.1417+71G>A	NP_001120838.1:n.1417+71G>A
NM_181457.4:c.*51G>A	NP_852122.1:n.*51G>A
NM_181458.4:c.1420+71G>A MANE Select	NP_852123.1:n.1420+71G>A
NM_181459.4:c.1420+71G>A	NP_852124.1:n.1420+71G>A
NM_181460.4:c.1174-431G>A	NP_852125.1:n.1174-431G>A
NM_181461.4:c.1174-431G>A	NP_852126.1:n.1174-431G>A