Canonical Allele Identifier: CA2135361

Gene: PAX3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222201151C>G , CM000664.2:g.222201151C>G	GRCh38
NC_000002.11:g.223065870C>G , CM000664.1:g.223065870C>G	GRCh37
NC_000002.10:g.222774114C>G	NCBI36
NG_011632.1:g.102831G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_181458.4:c.*257G>C MANE Select	NP_852123.1:n.*257G>C
ENST00000392070.7:c.*257G>C MANE Select	ENSP00000375922.3:n.*257G>C
NM_001127366.2:c.*257G>C	NP_001120838.1:n.*257G>C
NM_001127366.3:c.*257G>C	NP_001120838.1:n.*257G>C
NM_181458.3:c.*257G>C	NP_852123.1:n.*257G>C
NM_181459.3:c.*23G>C	NP_852124.1:n.*23G>C
NM_181459.4:c.*23G>C	NP_852124.1:n.*23G>C
NM_181460.3:c.*70G>C	NP_852125.1:n.*70G>C
NM_181460.4:c.*70G>C	NP_852125.1:n.*70G>C
NM_181461.3:c.*253G>C	NP_852126.1:n.*253G>C
NM_181461.4:c.*253G>C	NP_852126.1:n.*253G>C
ENST00000336840.10:c.*70G>C	ENSP00000338767.5:n.*70G>C
ENST00000336840.11:c.*70G>C	ENSP00000338767.5:n.*70G>C
ENST00000344493.8:c.*253G>C	ENSP00000342092.4:n.*253G>C
ENST00000350526.8:c.*773G>C	ENSP00000343052.4:n.*773G>C
ENST00000392069.6:c.*23G>C	ENSP00000375921.2:n.*23G>C
ENST00000392070.6:c.*257G>C	ENSP00000375922.2:n.*257G>C
XM_011511278.1:c.*23G>C	XP_011509580.1:n.*23G>C
XM_011511279.1:c.*23G>C	XP_011509581.1:n.*23G>C