Canonical Allele Identifier: CA431575548

Gene: PAX3

Linked Data

• gnomAD v4: 2-222221333-G-A
• MyVariant Identifiers: chr2:g.223086052G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222221333G>A , CM000664.2:g.222221333G>A	GRCh38
NC_000002.11:g.223086052G>A , CM000664.1:g.223086052G>A	GRCh37
NC_000002.10:g.222794296G>A	NCBI36
NG_011632.1:g.82649C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.847C>T	ENSP00000338767.5:p.Leu283=
ENST00000344493.9:c.847C>T	ENSP00000342092.4:p.Leu283=
ENST00000350526.9:c.847C>T	ENSP00000343052.4:p.Leu283=
ENST00000392070.7:c.847C>T MANE Select	ENSP00000375922.3:p.Leu283=
ENST00000464706.6:n.285C>T
ENST00000644699.1:n.173C>T
ENST00000644937.1:n.119C>T
ENST00000646154.1:n.661C>T
ENST00000336840.10:c.847C>T	ENSP00000338767.5:p.Leu283=
ENST00000344493.8:c.847C>T	ENSP00000342092.4:p.Leu283=
ENST00000350526.8:c.847C>T	ENSP00000343052.4:p.Leu283=
ENST00000392069.6:c.847C>T	ENSP00000375921.2:p.Leu283=
ENST00000392070.6:c.847C>T	ENSP00000375922.2:p.Leu283=
ENST00000409551.7:c.844C>T	ENSP00000386750.3:p.Leu282=
ENST00000464706.5:n.271C>T
ENST00000555548.1:n.78C>T
NM_001127366.2:c.844C>T	NP_001120838.1:p.Leu282=
NM_181457.3:c.847C>T	NP_852122.1:p.Leu283=
NM_181458.3:c.847C>T	NP_852123.1:p.Leu283=
NM_181459.3:c.847C>T	NP_852124.1:p.Leu283=
NM_181460.3:c.847C>T	NP_852125.1:p.Leu283=
NM_181461.3:c.847C>T	NP_852126.1:p.Leu283=
XM_011511278.1:c.991C>T	XP_011509580.1:p.Leu331=
XM_011511279.1:c.283C>T	XP_011509581.1:p.Leu95=
NM_001127366.3:c.844C>T	NP_001120838.1:p.Leu282=
NM_181457.4:c.847C>T	NP_852122.1:p.Leu283=
NM_181458.4:c.847C>T MANE Select	NP_852123.1:p.Leu283=
NM_181459.4:c.847C>T	NP_852124.1:p.Leu283=
NM_181460.4:c.847C>T	NP_852125.1:p.Leu283=
NM_181461.4:c.847C>T	NP_852126.1:p.Leu283=