Canonical Allele Identifier: CA1042692340

Gene: PAX3

Linked Data

• dbSNP Id: rs1692629868
• gnomAD v3: 2-222232373-C-G
• gnomAD v4: 2-222232373-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222232373C>G , CM000664.2:g.222232373C>G	GRCh38
NC_000002.11:g.223097092C>G , CM000664.1:g.223097092C>G	GRCh37
NC_000002.10:g.222805336C>G	NCBI36
NG_011632.1:g.71609G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.587-90G>C	ENSP00000338767.5:n.587-90G>C
ENST00000344493.9:c.587-90G>C	ENSP00000342092.4:n.587-90G>C
ENST00000350526.9:c.587-90G>C	ENSP00000343052.4:n.587-90G>C
ENST00000392070.7:c.587-90G>C MANE Select	ENSP00000375922.3:n.587-90G>C
ENST00000646154.1:n.401-90G>C
ENST00000336840.10:c.587-90G>C	ENSP00000338767.5:n.587-90G>C
ENST00000344493.8:c.587-90G>C	ENSP00000342092.4:n.587-90G>C
ENST00000350526.8:c.587-90G>C	ENSP00000343052.4:n.587-90G>C
ENST00000392069.6:c.587-90G>C	ENSP00000375921.2:n.587-90G>C
ENST00000392070.6:c.587-90G>C	ENSP00000375922.2:n.587-90G>C
ENST00000409551.7:c.584-90G>C	ENSP00000386750.3:n.584-90G>C
NM_001127366.2:c.584-90G>C	NP_001120838.1:n.584-90G>C
NM_181457.3:c.587-90G>C	NP_852122.1:n.587-90G>C
NM_181458.3:c.587-90G>C	NP_852123.1:n.587-90G>C
NM_181459.3:c.587-90G>C	NP_852124.1:n.587-90G>C
NM_181460.3:c.587-90G>C	NP_852125.1:n.587-90G>C
NM_181461.3:c.587-90G>C	NP_852126.1:n.587-90G>C
XM_011511278.1:c.731-90G>C	XP_011509580.1:n.731-90G>C
XM_011511279.1:c.23-90G>C	XP_011509581.1:n.23-90G>C
XR_923945.1:n.287+10403C>G
NM_001127366.3:c.584-90G>C	NP_001120838.1:n.584-90G>C
NM_181457.4:c.587-90G>C	NP_852122.1:n.587-90G>C
NM_181458.4:c.587-90G>C MANE Select	NP_852123.1:n.587-90G>C
NM_181459.4:c.587-90G>C	NP_852124.1:n.587-90G>C
NM_181460.4:c.587-90G>C	NP_852125.1:n.587-90G>C
NM_181461.4:c.587-90G>C	NP_852126.1:n.587-90G>C