Canonical Allele Identifier: CA431668895

Gene: PAX3

Linked Data

• MyVariant Identifiers: chr2:g.223066892G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222202173G>C , CM000664.2:g.222202173G>C	GRCh38
NC_000002.11:g.223066892G>C , CM000664.1:g.223066892G>C	GRCh37
NC_000002.10:g.222775136G>C	NCBI36
NG_011632.1:g.101809C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-731C>G	ENSP00000338767.5:n.1174-731C>G
ENST00000344493.9:c.1174-731C>G	ENSP00000342092.4:n.1174-731C>G
ENST00000350526.9:c.1191C>G	ENSP00000343052.4:p.Thr397=
ENST00000392070.7:c.1191C>G MANE Select	ENSP00000375922.3:p.Thr397=
ENST00000464706.6:n.629C>G
ENST00000644699.1:n.517C>G
ENST00000646154.1:n.1005C>G
ENST00000336840.10:c.1174-731C>G	ENSP00000338767.5:n.1174-731C>G
ENST00000344493.8:c.1174-731C>G	ENSP00000342092.4:n.1174-731C>G
ENST00000350526.8:c.1191C>G	ENSP00000343052.4:p.Thr397=
ENST00000392069.6:c.1191C>G	ENSP00000375921.2:p.Thr397=
ENST00000392070.6:c.1191C>G	ENSP00000375922.2:p.Thr397=
ENST00000409551.7:c.1188C>G	ENSP00000386750.3:p.Thr396=
ENST00000464706.5:n.615C>G
ENST00000555548.1:n.422C>G
NM_001127366.2:c.1188C>G	NP_001120838.1:p.Thr396=
NM_181457.3:c.1191C>G	NP_852122.1:p.Thr397=
NM_181458.3:c.1191C>G	NP_852123.1:p.Thr397=
NM_181459.3:c.1191C>G	NP_852124.1:p.Thr397=
NM_181460.3:c.1174-731C>G	NP_852125.1:n.1174-731C>G
NM_181461.3:c.1174-731C>G	NP_852126.1:n.1174-731C>G
XM_011511278.1:c.1335C>G	XP_011509580.1:p.Thr445=
XM_011511279.1:c.627C>G	XP_011509581.1:p.Thr209=
NM_001127366.3:c.1188C>G	NP_001120838.1:p.Thr396=
NM_181457.4:c.1191C>G	NP_852122.1:p.Thr397=
NM_181458.4:c.1191C>G MANE Select	NP_852123.1:p.Thr397=
NM_181459.4:c.1191C>G	NP_852124.1:p.Thr397=
NM_181460.4:c.1174-731C>G	NP_852125.1:n.1174-731C>G
NM_181461.4:c.1174-731C>G	NP_852126.1:n.1174-731C>G