Canonical Allele Identifier: CA10764770

Gene: PAX7

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.18705778G>C , CM000663.2:g.18705778G>C	GRCh38
NC_000001.10:g.19032272G>C , CM000663.1:g.19032272G>C	GRCh37
NC_000001.9:g.18904859G>C	NCBI36
NG_023262.1:g.79773G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420770.7:c.1155+2482G>C MANE Select	ENSP00000403389.2:n.1155+2482G>C
ENST00000375375.7:c.1155+2482G>C	ENSP00000364524.3:n.1155+2482G>C
ENST00000400661.3:c.1149+2482G>C	ENSP00000383502.3:n.1149+2482G>C
ENST00000420770.6:c.1155+2482G>C	ENSP00000403389.2:n.1155+2482G>C
NM_001135254.1:c.1155+2482G>C	NP_001128726.1:n.1155+2482G>C
NM_002584.2:c.1155+2482G>C	NP_002575.1:n.1155+2482G>C
NM_013945.2:c.1149+2482G>C	NP_039236.1:n.1149+2482G>C
NM_001135254.2:c.1155+2482G>C MANE Select	NP_001128726.1:n.1155+2482G>C
NM_002584.3:c.1155+2482G>C	NP_002575.1:n.1155+2482G>C
NM_013945.3:c.1149+2482G>C	NP_039236.1:n.1149+2482G>C