Canonical Allele Identifier: CA537956
Community Standard Title: NM_002617.4(PEX10):c.913-2A>C
Gene: PEX10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2405836T>G , CM000663.2:g.2405836T>G GRCh38
NC_000001.10:g.2337275T>G , CM000663.1:g.2337275T>G GRCh37
NC_000001.9:g.2327135T>G NCBI36
NG_008342.1:g.11736A>C
NG_016128.1:g.19062T>G

Transcript Alleles

HGVS Amino-acid Change
NM_002617.4:c.913-2A>C MANE Select NP_002608.1:n.913-2A>C
ENST00000447513.7:c.913-2A>C MANE Select ENSP00000407922.2:n.913-2A>C
NM_001374425.1:c.970-2A>C NP_001361354.1:n.970-2A>C
NM_001374426.1:c.538-2A>C NP_001361355.1:n.538-2A>C
NM_001374427.1:c.481-2A>C NP_001361356.1:n.481-2A>C
NM_002617.3:c.913-2A>C NP_002608.1:n.913-2A>C
NM_153818.1:c.973-2A>C NP_722540.1:n.973-2A>C
NM_153818.2:c.973-2A>C NP_722540.1:n.973-2A>C
NR_164636.1:n.1028-2A>C
ENST00000288774.7:c.973-2A>C ENSP00000288774.3:n.973-2A>C
ENST00000288774.8:c.973-2A>C ENSP00000288774.3:n.973-2A>C
ENST00000447513.6:c.913-2A>C ENSP00000407922.2:n.913-2A>C
ENST00000507596.5:c.913-8A>C ENSP00000424291.1:n.913-8A>C
ENST00000650293.1:c.867-2A>C
XM_011541573.1:c.970-2A>C XP_011539875.1:n.970-2A>C
XM_011541574.1:c.538-2A>C XP_011539876.1:n.538-2A>C
XM_011541575.1:c.538-2A>C XP_011539877.1:n.538-2A>C
XR_946666.1:n.1029-2A>C
XR_946666.2:n.978-2A>C