Canonical Allele Identifier: CA2135759

Gene: PAX3

Linked Data

• dbSNP Id: rs763028698
• ExAC: 2:223160358 C / A
• gnomAD v2: 2-223160358-C-A
• gnomAD v4: 2-222295639-C-A
• MyVariant Identifiers: chr2:g.223160358C>A (hg19) ; chr2:g.222295639C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222295639C>A , CM000664.2:g.222295639C>A	GRCh38
NC_000002.11:g.223160358C>A , CM000664.1:g.223160358C>A	GRCh37
NC_000002.10:g.222868602C>A	NCBI36
NG_011632.1:g.8343G>T
NG_021186.1:g.2493C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258387.6:c.340G>T	ENSP00000258387.5:p.Val114Leu
ENST00000336840.11:c.340G>T	ENSP00000338767.5:p.Val114Leu
ENST00000344493.9:c.340G>T	ENSP00000342092.4:p.Val114Leu
ENST00000350526.9:c.340G>T	ENSP00000343052.4:p.Val114Leu
ENST00000392070.7:c.340G>T MANE Select	ENSP00000375922.3:p.Val114Leu
ENST00000647467.1:n.721G>T
ENST00000258387.5:c.340G>T	ENSP00000258387.5:p.Val114Leu
ENST00000336840.10:c.340G>T	ENSP00000338767.5:p.Val114Leu
ENST00000344493.8:c.340G>T	ENSP00000342092.4:p.Val114Leu
ENST00000350526.8:c.340G>T	ENSP00000343052.4:p.Val114Leu
ENST00000392069.6:c.340G>T	ENSP00000375921.2:p.Val114Leu
ENST00000392070.6:c.340G>T	ENSP00000375922.2:p.Val114Leu
ENST00000409551.7:c.337G>T	ENSP00000386750.3:p.Val113Leu
ENST00000409828.7:c.340G>T	ENSP00000386817.3:p.Val114Leu
NM_000438.5:c.340G>T	NP_000429.2:p.Val114Leu
NM_001127366.2:c.337G>T	NP_001120838.1:p.Val113Leu
NM_013942.4:c.340G>T	NP_039230.1:p.Val114Leu
NM_181457.3:c.340G>T	NP_852122.1:p.Val114Leu
NM_181458.3:c.340G>T	NP_852123.1:p.Val114Leu
NM_181459.3:c.340G>T	NP_852124.1:p.Val114Leu
NM_181460.3:c.340G>T	NP_852125.1:p.Val114Leu
NM_181461.3:c.340G>T	NP_852126.1:p.Val114Leu
XM_011511278.1:c.484G>T	XP_011509580.1:p.Val162Leu
XM_011511280.1:c.484G>T	XP_011509582.1:p.Val162Leu
XM_011511281.1:c.484G>T	XP_011509583.1:p.Val162Leu
NM_000438.6:c.340G>T	NP_000429.2:p.Val114Leu
NM_001127366.3:c.337G>T	NP_001120838.1:p.Val113Leu
NM_013942.5:c.340G>T	NP_039230.1:p.Val114Leu
NM_181457.4:c.340G>T	NP_852122.1:p.Val114Leu
NM_181458.4:c.340G>T MANE Select	NP_852123.1:p.Val114Leu
NM_181459.4:c.340G>T	NP_852124.1:p.Val114Leu
NM_181460.4:c.340G>T	NP_852125.1:p.Val114Leu
NM_181461.4:c.340G>T	NP_852126.1:p.Val114Leu