Canonical Allele Identifier: CA10614347

Gene: PAX3 CCDC140

Linked Data

• ClinVar Variation Id: 334567
• ClinVar RCV Id: RCV000304299 ; RCV000363625
• dbSNP Id: rs45501095
• gnomAD v2: 2-223163693-C-A
• gnomAD v3: 2-222298974-C-A
• gnomAD v4: 2-222298974-C-A
• MyVariant Identifiers: chr2:g.223163693C>A (hg19) ; chr2:g.222298974C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222298974C>A , CM000664.2:g.222298974C>A	GRCh38
NC_000002.11:g.223163693C>A , CM000664.1:g.223163693C>A	GRCh37
NC_000002.10:g.222871937C>A	NCBI36
NG_011632.1:g.5008G>T
NG_021186.1:g.5828C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392070.7:c.-359G>T (PAX3) MANE Select	ENSP00000375922.3:n.-359G>T
ENST00000647467.1:n.23G>T (PAX3)
ENST00000295226.1:c.-158+601C>A (CCDC140)	ENSP00000295226.1:n.-158+601C>A
ENST00000336840.10:c.-359G>T (PAX3)	ENSP00000338767.5:n.-359G>T
ENST00000344493.8:c.-359G>T (PAX3)	ENSP00000342092.4:n.-359G>T
ENST00000392069.6:c.-359G>T (PAX3)	ENSP00000375921.2:n.-359G>T
ENST00000392070.6:c.-359G>T (PAX3)	ENSP00000375922.2:n.-359G>T
NM_000438.5:c.-359G>T (PAX3)	NP_000429.2:n.-359G>T
NM_001127366.2:c.-359G>T (PAX3)	NP_001120838.1:n.-359G>T
NM_013942.4:c.-359G>T (PAX3)	NP_039230.1:n.-359G>T
NM_153038.1:c.-158+601C>A (CCDC140)	NP_694583.1:n.-158+601C>A
NM_181457.3:c.-359G>T (PAX3)	NP_852122.1:n.-359G>T
NM_181458.3:c.-359G>T (PAX3)	NP_852123.1:n.-359G>T
NM_181459.3:c.-359G>T (PAX3)	NP_852124.1:n.-359G>T
NM_181460.3:c.-359G>T (PAX3)	NP_852125.1:n.-359G>T
NM_181461.3:c.-359G>T (PAX3)	NP_852126.1:n.-359G>T
XM_011511278.1:c.230-1761G>T (PAX3)	XP_011509580.1:n.230-1761G>T
XM_011511280.1:c.230-1761G>T (PAX3)	XP_011509582.1:n.230-1761G>T
XM_011511281.1:c.230-1761G>T (PAX3)	XP_011509583.1:n.230-1761G>T
NM_000438.6:c.-359G>T (PAX3)	NP_000429.2:n.-359G>T
NM_001127366.3:c.-359G>T (PAX3)	NP_001120838.1:n.-359G>T
NM_013942.5:c.-359G>T (PAX3)	NP_039230.1:n.-359G>T
NM_181457.4:c.-359G>T (PAX3)	NP_852122.1:n.-359G>T
NM_181458.4:c.-359G>T (PAX3) MANE Select	NP_852123.1:n.-359G>T
NM_181459.4:c.-359G>T (PAX3)	NP_852124.1:n.-359G>T
NM_181460.4:c.-359G>T (PAX3)	NP_852125.1:n.-359G>T
NM_181461.4:c.-359G>T (PAX3)	NP_852126.1:n.-359G>T
NR_161172.1:n.227+601C>A (CCDC140)