Canonical Allele Identifier: CA351112312

Gene: PAX3

Linked Data

• gnomAD v4: 2-222232134-T-C
• MyVariant Identifiers: chr2:g.223096853T>C (hg19) ; chr2:g.222232134T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222232134T>C , CM000664.2:g.222232134T>C	GRCh38
NC_000002.11:g.223096853T>C , CM000664.1:g.223096853T>C	GRCh37
NC_000002.10:g.222805097T>C	NCBI36
NG_011632.1:g.71848A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.736A>G	ENSP00000338767.5:p.Ile246Val
ENST00000344493.9:c.736A>G	ENSP00000342092.4:p.Ile246Val
ENST00000350526.9:c.736A>G	ENSP00000343052.4:p.Ile246Val
ENST00000392070.7:c.736A>G MANE Select	ENSP00000375922.3:p.Ile246Val
ENST00000646154.1:n.550A>G
ENST00000336840.10:c.736A>G	ENSP00000338767.5:p.Ile246Val
ENST00000344493.8:c.736A>G	ENSP00000342092.4:p.Ile246Val
ENST00000350526.8:c.736A>G	ENSP00000343052.4:p.Ile246Val
ENST00000392069.6:c.736A>G	ENSP00000375921.2:p.Ile246Val
ENST00000392070.6:c.736A>G	ENSP00000375922.2:p.Ile246Val
ENST00000409551.7:c.733A>G	ENSP00000386750.3:p.Ile245Val
NM_001127366.2:c.733A>G	NP_001120838.1:p.Ile245Val
NM_181457.3:c.736A>G	NP_852122.1:p.Ile246Val
NM_181458.3:c.736A>G	NP_852123.1:p.Ile246Val
NM_181459.3:c.736A>G	NP_852124.1:p.Ile246Val
NM_181460.3:c.736A>G	NP_852125.1:p.Ile246Val
NM_181461.3:c.736A>G	NP_852126.1:p.Ile246Val
XM_011511278.1:c.880A>G	XP_011509580.1:p.Ile294Val
XM_011511279.1:c.172A>G	XP_011509581.1:p.Ile58Val
XR_923945.1:n.287+10164T>C
NM_001127366.3:c.733A>G	NP_001120838.1:p.Ile245Val
NM_181457.4:c.736A>G	NP_852122.1:p.Ile246Val
NM_181458.4:c.736A>G MANE Select	NP_852123.1:p.Ile246Val
NM_181459.4:c.736A>G	NP_852124.1:p.Ile246Val
NM_181460.4:c.736A>G	NP_852125.1:p.Ile246Val
NM_181461.4:c.736A>G	NP_852126.1:p.Ile246Val