Canonical Allele Identifier: CA338295965

Gene: PAX7

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.18735969T>G , CM000663.2:g.18735969T>G	GRCh38
NC_000001.10:g.19062463T>G , CM000663.1:g.19062463T>G	GRCh37
NC_000001.9:g.18935050T>G	NCBI36
NG_023262.1:g.109964T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001135254.2:c.1402+91T>G MANE Select	NP_001128726.1:n.1402+91T>G
ENST00000420770.7:c.1402+91T>G MANE Select	ENSP00000403389.2:n.1402+91T>G
NM_001135254.1:c.1402+91T>G	NP_001128726.1:n.1402+91T>G
NM_002584.2:c.1493T>G	NP_002575.1:p.Val498Gly
NM_002584.3:c.1493T>G	NP_002575.1:p.Val498Gly
NM_013945.2:c.1487T>G	NP_039236.1:p.Val496Gly
NM_013945.3:c.1487T>G	NP_039236.1:p.Val496Gly
ENST00000375375.7:c.1493T>G	ENSP00000364524.3:p.Val498Gly
ENST00000400661.3:c.1487T>G	ENSP00000383502.3:p.Val496Gly
ENST00000420770.6:c.1402+91T>G	ENSP00000403389.2:n.1402+91T>G