Canonical Allele Identifier: CA431575542

Gene: PAX3

Linked Data

• gnomAD v4: 2-222221325-A-C
• MyVariant Identifiers: chr2:g.223086044A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222221325A>C , CM000664.2:g.222221325A>C	GRCh38
NC_000002.11:g.223086044A>C , CM000664.1:g.223086044A>C	GRCh37
NC_000002.10:g.222794288A>C	NCBI36
NG_011632.1:g.82657T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.855T>G	ENSP00000338767.5:p.Ala285=
ENST00000344493.9:c.855T>G	ENSP00000342092.4:p.Ala285=
ENST00000350526.9:c.855T>G	ENSP00000343052.4:p.Ala285=
ENST00000392070.7:c.855T>G MANE Select	ENSP00000375922.3:p.Ala285=
ENST00000464706.6:n.293T>G
ENST00000644699.1:n.181T>G
ENST00000644937.1:n.127T>G
ENST00000646154.1:n.669T>G
ENST00000336840.10:c.855T>G	ENSP00000338767.5:p.Ala285=
ENST00000344493.8:c.855T>G	ENSP00000342092.4:p.Ala285=
ENST00000350526.8:c.855T>G	ENSP00000343052.4:p.Ala285=
ENST00000392069.6:c.855T>G	ENSP00000375921.2:p.Ala285=
ENST00000392070.6:c.855T>G	ENSP00000375922.2:p.Ala285=
ENST00000409551.7:c.852T>G	ENSP00000386750.3:p.Ala284=
ENST00000464706.5:n.279T>G
ENST00000555548.1:n.86T>G
NM_001127366.2:c.852T>G	NP_001120838.1:p.Ala284=
NM_181457.3:c.855T>G	NP_852122.1:p.Ala285=
NM_181458.3:c.855T>G	NP_852123.1:p.Ala285=
NM_181459.3:c.855T>G	NP_852124.1:p.Ala285=
NM_181460.3:c.855T>G	NP_852125.1:p.Ala285=
NM_181461.3:c.855T>G	NP_852126.1:p.Ala285=
XM_011511278.1:c.999T>G	XP_011509580.1:p.Ala333=
XM_011511279.1:c.291T>G	XP_011509581.1:p.Ala97=
NM_001127366.3:c.852T>G	NP_001120838.1:p.Ala284=
NM_181457.4:c.855T>G	NP_852122.1:p.Ala285=
NM_181458.4:c.855T>G MANE Select	NP_852123.1:p.Ala285=
NM_181459.4:c.855T>G	NP_852124.1:p.Ala285=
NM_181460.4:c.855T>G	NP_852125.1:p.Ala285=
NM_181461.4:c.855T>G	NP_852126.1:p.Ala285=