Canonical Allele Identifier: CA351112523

Gene: PAX3

Linked Data

• gnomAD v4: 2-222232179-G-C
• MyVariant Identifiers: chr2:g.223096898G>C (hg19) ; chr2:g.222232179G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222232179G>C , CM000664.2:g.222232179G>C	GRCh38
NC_000002.11:g.223096898G>C , CM000664.1:g.223096898G>C	GRCh37
NC_000002.10:g.222805142G>C	NCBI36
NG_011632.1:g.71803C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000336840.11:c.691C>G	ENSP00000338767.5:p.Leu231Val
ENST00000344493.9:c.691C>G	ENSP00000342092.4:p.Leu231Val
ENST00000350526.9:c.691C>G	ENSP00000343052.4:p.Leu231Val
ENST00000392070.7:c.691C>G MANE Select	ENSP00000375922.3:p.Leu231Val
ENST00000646154.1:n.505C>G
ENST00000336840.10:c.691C>G	ENSP00000338767.5:p.Leu231Val
ENST00000344493.8:c.691C>G	ENSP00000342092.4:p.Leu231Val
ENST00000350526.8:c.691C>G	ENSP00000343052.4:p.Leu231Val
ENST00000392069.6:c.691C>G	ENSP00000375921.2:p.Leu231Val
ENST00000392070.6:c.691C>G	ENSP00000375922.2:p.Leu231Val
ENST00000409551.7:c.688C>G	ENSP00000386750.3:p.Leu230Val
NM_001127366.2:c.688C>G	NP_001120838.1:p.Leu230Val
NM_181457.3:c.691C>G	NP_852122.1:p.Leu231Val
NM_181458.3:c.691C>G	NP_852123.1:p.Leu231Val
NM_181459.3:c.691C>G	NP_852124.1:p.Leu231Val
NM_181460.3:c.691C>G	NP_852125.1:p.Leu231Val
NM_181461.3:c.691C>G	NP_852126.1:p.Leu231Val
XM_011511278.1:c.835C>G	XP_011509580.1:p.Leu279Val
XM_011511279.1:c.127C>G	XP_011509581.1:p.Leu43Val
XR_923945.1:n.287+10209G>C
NM_001127366.3:c.688C>G	NP_001120838.1:p.Leu230Val
NM_181457.4:c.691C>G	NP_852122.1:p.Leu231Val
NM_181458.4:c.691C>G MANE Select	NP_852123.1:p.Leu231Val
NM_181459.4:c.691C>G	NP_852124.1:p.Leu231Val
NM_181460.4:c.691C>G	NP_852125.1:p.Leu231Val
NM_181461.4:c.691C>G	NP_852126.1:p.Leu231Val