Canonical Allele Identifier: CA765234757

Gene: PAX3

Linked Data

• dbSNP Id: rs1443399649
• gnomAD v3: 2-222272190-A-G
• gnomAD v4: 2-222272190-A-G
• MyVariant Identifiers: chr2:g.223136909A>G (hg19) ; chr2:g.222272190A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222272190A>G , CM000664.2:g.222272190A>G	GRCh38
NC_000002.11:g.223136909A>G , CM000664.1:g.223136909A>G	GRCh37
NC_000002.10:g.222845153A>G	NCBI36
NG_011632.1:g.31792T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000336840.11:c.586+21977T>C	ENSP00000338767.5:n.586+21977T>C
ENST00000344493.9:c.586+21977T>C	ENSP00000342092.4:n.586+21977T>C
ENST00000350526.9:c.586+21977T>C	ENSP00000343052.4:n.586+21977T>C
ENST00000392070.7:c.586+21977T>C MANE Select	ENSP00000375922.3:n.586+21977T>C
ENST00000644490.1:n.183-7065T>C
ENST00000647467.1:n.968-7065T>C
ENST00000336840.10:c.586+21977T>C	ENSP00000338767.5:n.586+21977T>C
ENST00000344493.8:c.586+21977T>C	ENSP00000342092.4:n.586+21977T>C
ENST00000350526.8:c.586+21977T>C	ENSP00000343052.4:n.586+21977T>C
ENST00000392069.6:c.586+21977T>C	ENSP00000375921.2:n.586+21977T>C
ENST00000392070.6:c.586+21977T>C	ENSP00000375922.2:n.586+21977T>C
ENST00000409551.7:c.583+21977T>C	ENSP00000386750.3:n.583+21977T>C
NM_001127366.2:c.583+21977T>C	NP_001120838.1:n.583+21977T>C
NM_181457.3:c.586+21977T>C	NP_852122.1:n.586+21977T>C
NM_181458.3:c.586+21977T>C	NP_852123.1:n.586+21977T>C
NM_181459.3:c.586+21977T>C	NP_852124.1:n.586+21977T>C
NM_181460.3:c.586+21977T>C	NP_852125.1:n.586+21977T>C
NM_181461.3:c.586+21977T>C	NP_852126.1:n.586+21977T>C
XM_011511278.1:c.730+21977T>C	XP_011509580.1:n.730+21977T>C
XM_011511280.1:c.731-7065T>C	XP_011509582.1:n.731-7065T>C
NM_001127366.3:c.583+21977T>C	NP_001120838.1:n.583+21977T>C
NM_181457.4:c.586+21977T>C	NP_852122.1:n.586+21977T>C
NM_181458.4:c.586+21977T>C MANE Select	NP_852123.1:n.586+21977T>C
NM_181459.4:c.586+21977T>C	NP_852124.1:n.586+21977T>C
NM_181460.4:c.586+21977T>C	NP_852125.1:n.586+21977T>C
NM_181461.4:c.586+21977T>C	NP_852126.1:n.586+21977T>C