Canonical Allele Identifier: CA351115909

Gene: PAX3

Linked Data

• gnomAD v4: 2-222202178-G-C
• MyVariant Identifiers: chr2:g.223066897G>C (hg19) ; chr2:g.222202178G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222202178G>C , CM000664.2:g.222202178G>C	GRCh38
NC_000002.11:g.223066897G>C , CM000664.1:g.223066897G>C	GRCh37
NC_000002.10:g.222775141G>C	NCBI36
NG_011632.1:g.101804C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-736C>G	ENSP00000338767.5:n.1174-736C>G
ENST00000344493.9:c.1174-736C>G	ENSP00000342092.4:n.1174-736C>G
ENST00000350526.9:c.1186C>G	ENSP00000343052.4:p.Leu396Val
ENST00000392070.7:c.1186C>G MANE Select	ENSP00000375922.3:p.Leu396Val
ENST00000464706.6:n.624C>G
ENST00000644699.1:n.512C>G
ENST00000646154.1:n.1000C>G
ENST00000336840.10:c.1174-736C>G	ENSP00000338767.5:n.1174-736C>G
ENST00000344493.8:c.1174-736C>G	ENSP00000342092.4:n.1174-736C>G
ENST00000350526.8:c.1186C>G	ENSP00000343052.4:p.Leu396Val
ENST00000392069.6:c.1186C>G	ENSP00000375921.2:p.Leu396Val
ENST00000392070.6:c.1186C>G	ENSP00000375922.2:p.Leu396Val
ENST00000409551.7:c.1183C>G	ENSP00000386750.3:p.Leu395Val
ENST00000464706.5:n.610C>G
ENST00000555548.1:n.417C>G
NM_001127366.2:c.1183C>G	NP_001120838.1:p.Leu395Val
NM_181457.3:c.1186C>G	NP_852122.1:p.Leu396Val
NM_181458.3:c.1186C>G	NP_852123.1:p.Leu396Val
NM_181459.3:c.1186C>G	NP_852124.1:p.Leu396Val
NM_181460.3:c.1174-736C>G	NP_852125.1:n.1174-736C>G
NM_181461.3:c.1174-736C>G	NP_852126.1:n.1174-736C>G
XM_011511278.1:c.1330C>G	XP_011509580.1:p.Leu444Val
XM_011511279.1:c.622C>G	XP_011509581.1:p.Leu208Val
NM_001127366.3:c.1183C>G	NP_001120838.1:p.Leu395Val
NM_181457.4:c.1186C>G	NP_852122.1:p.Leu396Val
NM_181458.4:c.1186C>G MANE Select	NP_852123.1:p.Leu396Val
NM_181459.4:c.1186C>G	NP_852124.1:p.Leu396Val
NM_181460.4:c.1174-736C>G	NP_852125.1:n.1174-736C>G
NM_181461.4:c.1174-736C>G	NP_852126.1:n.1174-736C>G