Canonical Allele Identifier: CA2663322104

Gene: PAX3

Linked Data

• gnomAD v4: 2-222201809-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222201809T>G , CM000664.2:g.222201809T>G	GRCh38
NC_000002.11:g.223066528T>G , CM000664.1:g.223066528T>G	GRCh37
NC_000002.10:g.222774772T>G	NCBI36
NG_011632.1:g.102173A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-367A>C	ENSP00000338767.5:n.1174-367A>C
ENST00000344493.9:c.1174-367A>C	ENSP00000342092.4:n.1174-367A>C
ENST00000350526.9:c.*115A>C	ENSP00000343052.4:n.*115A>C
ENST00000392070.7:c.1420+135A>C MANE Select	ENSP00000375922.3:n.1420+135A>C
ENST00000464706.6:n.858+135A>C
ENST00000644699.1:n.746+135A>C
ENST00000646154.1:n.1234+135A>C
ENST00000336840.10:c.1174-367A>C	ENSP00000338767.5:n.1174-367A>C
ENST00000344493.8:c.1174-367A>C	ENSP00000342092.4:n.1174-367A>C
ENST00000350526.8:c.*115A>C	ENSP00000343052.4:n.*115A>C
ENST00000392069.6:c.1420+135A>C	ENSP00000375921.2:n.1420+135A>C
ENST00000392070.6:c.1420+135A>C	ENSP00000375922.2:n.1420+135A>C
ENST00000409551.7:c.1417+135A>C	ENSP00000386750.3:n.1417+135A>C
NM_001127366.2:c.1417+135A>C	NP_001120838.1:n.1417+135A>C
NM_181457.3:c.*115A>C	NP_852122.1:n.*115A>C
NM_181458.3:c.1420+135A>C	NP_852123.1:n.1420+135A>C
NM_181459.3:c.1420+135A>C	NP_852124.1:n.1420+135A>C
NM_181460.3:c.1174-367A>C	NP_852125.1:n.1174-367A>C
NM_181461.3:c.1174-367A>C	NP_852126.1:n.1174-367A>C
XM_011511278.1:c.1564+135A>C	XP_011509580.1:n.1564+135A>C
XM_011511279.1:c.856+135A>C	XP_011509581.1:n.856+135A>C
NM_001127366.3:c.1417+135A>C	NP_001120838.1:n.1417+135A>C
NM_181457.4:c.*115A>C	NP_852122.1:n.*115A>C
NM_181458.4:c.1420+135A>C MANE Select	NP_852123.1:n.1420+135A>C
NM_181459.4:c.1420+135A>C	NP_852124.1:n.1420+135A>C
NM_181460.4:c.1174-367A>C	NP_852125.1:n.1174-367A>C
NM_181461.4:c.1174-367A>C	NP_852126.1:n.1174-367A>C