Canonical Allele Identifier: CA351115449

Gene: PAX3

Linked Data

• gnomAD v4: 2-222201963-T-G
• MyVariant Identifiers: chr2:g.223066682T>G (hg19) ; chr2:g.222201963T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222201963T>G , CM000664.2:g.222201963T>G	GRCh38
NC_000002.11:g.223066682T>G , CM000664.1:g.223066682T>G	GRCh37
NC_000002.10:g.222774926T>G	NCBI36
NG_011632.1:g.102019A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-521A>C	ENSP00000338767.5:n.1174-521A>C
ENST00000344493.9:c.1174-521A>C	ENSP00000342092.4:n.1174-521A>C
ENST00000350526.9:c.1401A>C	ENSP00000343052.4:p.Gln467His
ENST00000392070.7:c.1401A>C MANE Select	ENSP00000375922.3:p.Gln467His
ENST00000464706.6:n.839A>C
ENST00000644699.1:n.727A>C
ENST00000646154.1:n.1215A>C
ENST00000336840.10:c.1174-521A>C	ENSP00000338767.5:n.1174-521A>C
ENST00000344493.8:c.1174-521A>C	ENSP00000342092.4:n.1174-521A>C
ENST00000350526.8:c.1401A>C	ENSP00000343052.4:p.Gln467His
ENST00000392069.6:c.1401A>C	ENSP00000375921.2:p.Gln467His
ENST00000392070.6:c.1401A>C	ENSP00000375922.2:p.Gln467His
ENST00000409551.7:c.1398A>C	ENSP00000386750.3:p.Gln466His
NM_001127366.2:c.1398A>C	NP_001120838.1:p.Gln466His
NM_181457.3:c.1401A>C	NP_852122.1:p.Gln467His
NM_181458.3:c.1401A>C	NP_852123.1:p.Gln467His
NM_181459.3:c.1401A>C	NP_852124.1:p.Gln467His
NM_181460.3:c.1174-521A>C	NP_852125.1:n.1174-521A>C
NM_181461.3:c.1174-521A>C	NP_852126.1:n.1174-521A>C
XM_011511278.1:c.1545A>C	XP_011509580.1:p.Gln515His
XM_011511279.1:c.837A>C	XP_011509581.1:p.Gln279His
NM_001127366.3:c.1398A>C	NP_001120838.1:p.Gln466His
NM_181457.4:c.1401A>C	NP_852122.1:p.Gln467His
NM_181458.4:c.1401A>C MANE Select	NP_852123.1:p.Gln467His
NM_181459.4:c.1401A>C	NP_852124.1:p.Gln467His
NM_181460.4:c.1174-521A>C	NP_852125.1:n.1174-521A>C
NM_181461.4:c.1174-521A>C	NP_852126.1:n.1174-521A>C