Canonical Allele Identifier: CA351116544

Gene: PAX3

Linked Data

• MyVariant Identifiers: chr2:g.223086002C>A (hg19) ; chr2:g.222221283C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222221283C>A , CM000664.2:g.222221283C>A	GRCh38
NC_000002.11:g.223086002C>A , CM000664.1:g.223086002C>A	GRCh37
NC_000002.10:g.222794246C>A	NCBI36
NG_011632.1:g.82699G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.897G>T	ENSP00000338767.5:p.Met299Ile
ENST00000344493.9:c.897G>T	ENSP00000342092.4:p.Met299Ile
ENST00000350526.9:c.897G>T	ENSP00000343052.4:p.Met299Ile
ENST00000392070.7:c.897G>T MANE Select	ENSP00000375922.3:p.Met299Ile
ENST00000464706.6:n.335G>T
ENST00000644699.1:n.223G>T
ENST00000644937.1:n.169G>T
ENST00000646154.1:n.711G>T
ENST00000336840.10:c.897G>T	ENSP00000338767.5:p.Met299Ile
ENST00000344493.8:c.897G>T	ENSP00000342092.4:p.Met299Ile
ENST00000350526.8:c.897G>T	ENSP00000343052.4:p.Met299Ile
ENST00000392069.6:c.897G>T	ENSP00000375921.2:p.Met299Ile
ENST00000392070.6:c.897G>T	ENSP00000375922.2:p.Met299Ile
ENST00000409551.7:c.894G>T	ENSP00000386750.3:p.Met298Ile
ENST00000464706.5:n.321G>T
ENST00000555548.1:n.128G>T
NM_001127366.2:c.894G>T	NP_001120838.1:p.Met298Ile
NM_181457.3:c.897G>T	NP_852122.1:p.Met299Ile
NM_181458.3:c.897G>T	NP_852123.1:p.Met299Ile
NM_181459.3:c.897G>T	NP_852124.1:p.Met299Ile
NM_181460.3:c.897G>T	NP_852125.1:p.Met299Ile
NM_181461.3:c.897G>T	NP_852126.1:p.Met299Ile
XM_011511278.1:c.1041G>T	XP_011509580.1:p.Met347Ile
XM_011511279.1:c.333G>T	XP_011509581.1:p.Met111Ile
NM_001127366.3:c.894G>T	NP_001120838.1:p.Met298Ile
NM_181457.4:c.897G>T	NP_852122.1:p.Met299Ile
NM_181458.4:c.897G>T MANE Select	NP_852123.1:p.Met299Ile
NM_181459.4:c.897G>T	NP_852124.1:p.Met299Ile
NM_181460.4:c.897G>T	NP_852125.1:p.Met299Ile
NM_181461.4:c.897G>T	NP_852126.1:p.Met299Ile