Canonical Allele Identifier: CA18758815
Gene: PAX7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.18663757G>A , CM000663.2:g.18663757G>A GRCh38
NC_000001.10:g.18990251G>A , CM000663.1:g.18990251G>A GRCh37
NC_000001.9:g.18862838G>A NCBI36
NG_023262.1:g.37752G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000420770.7:c.586+27386G>A MANE Select ENSP00000403389.2:n.586+27386G>A
ENST00000375375.7:c.586+27386G>A ENSP00000364524.3:n.586+27386G>A
ENST00000400661.3:c.580+27386G>A ENSP00000383502.3:n.580+27386G>A
ENST00000420770.6:c.586+27386G>A ENSP00000403389.2:n.586+27386G>A
NM_001135254.1:c.586+27386G>A NP_001128726.1:n.586+27386G>A
NM_002584.2:c.586+27386G>A NP_002575.1:n.586+27386G>A
NM_013945.2:c.580+27386G>A NP_039236.1:n.580+27386G>A
NM_001135254.2:c.586+27386G>A MANE Select NP_001128726.1:n.586+27386G>A
NM_002584.3:c.586+27386G>A NP_002575.1:n.586+27386G>A
NM_013945.3:c.580+27386G>A NP_039236.1:n.580+27386G>A