Canonical Allele Identifier: CA351115431

Gene: PAX3

Linked Data

• gnomAD v4: 2-222201956-G-T
• MyVariant Identifiers: chr2:g.223066675G>T (hg19) ; chr2:g.222201956G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222201956G>T , CM000664.2:g.222201956G>T	GRCh38
NC_000002.11:g.223066675G>T , CM000664.1:g.223066675G>T	GRCh37
NC_000002.10:g.222774919G>T	NCBI36
NG_011632.1:g.102026C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-514C>A	ENSP00000338767.5:n.1174-514C>A
ENST00000344493.9:c.1174-514C>A	ENSP00000342092.4:n.1174-514C>A
ENST00000350526.9:c.1408C>A	ENSP00000343052.4:p.Gln470Lys
ENST00000392070.7:c.1408C>A MANE Select	ENSP00000375922.3:p.Gln470Lys
ENST00000464706.6:n.846C>A
ENST00000644699.1:n.734C>A
ENST00000646154.1:n.1222C>A
ENST00000336840.10:c.1174-514C>A	ENSP00000338767.5:n.1174-514C>A
ENST00000344493.8:c.1174-514C>A	ENSP00000342092.4:n.1174-514C>A
ENST00000350526.8:c.1408C>A	ENSP00000343052.4:p.Gln470Lys
ENST00000392069.6:c.1408C>A	ENSP00000375921.2:p.Gln470Lys
ENST00000392070.6:c.1408C>A	ENSP00000375922.2:p.Gln470Lys
ENST00000409551.7:c.1405C>A	ENSP00000386750.3:p.Gln469Lys
NM_001127366.2:c.1405C>A	NP_001120838.1:p.Gln469Lys
NM_181457.3:c.1408C>A	NP_852122.1:p.Gln470Lys
NM_181458.3:c.1408C>A	NP_852123.1:p.Gln470Lys
NM_181459.3:c.1408C>A	NP_852124.1:p.Gln470Lys
NM_181460.3:c.1174-514C>A	NP_852125.1:n.1174-514C>A
NM_181461.3:c.1174-514C>A	NP_852126.1:n.1174-514C>A
XM_011511278.1:c.1552C>A	XP_011509580.1:p.Gln518Lys
XM_011511279.1:c.844C>A	XP_011509581.1:p.Gln282Lys
NM_001127366.3:c.1405C>A	NP_001120838.1:p.Gln469Lys
NM_181457.4:c.1408C>A	NP_852122.1:p.Gln470Lys
NM_181458.4:c.1408C>A MANE Select	NP_852123.1:p.Gln470Lys
NM_181459.4:c.1408C>A	NP_852124.1:p.Gln470Lys
NM_181460.4:c.1174-514C>A	NP_852125.1:n.1174-514C>A
NM_181461.4:c.1174-514C>A	NP_852126.1:n.1174-514C>A