Canonical Allele Identifier: CA3071609355

Gene: PAX7

Genomic Alleles

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

Transcript Alleles

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