Canonical Allele Identifier: CA337984924
Community Standard Title: NM_002617.4(PEX10):c.776+2T>C
Gene: PEX10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2406718A>G , CM000663.2:g.2406718A>G GRCh38
NC_000001.10:g.2338157A>G , CM000663.1:g.2338157A>G GRCh37
NC_000001.9:g.2328017A>G NCBI36
NG_008342.1:g.10854T>C
NG_016128.1:g.19944A>G

Transcript Alleles

HGVS Amino-acid Change
NM_002617.4:c.776+2T>C MANE Select NP_002608.1:n.776+2T>C
ENST00000447513.7:c.776+2T>C MANE Select ENSP00000407922.2:n.776+2T>C
NM_001374425.1:c.833+2T>C NP_001361354.1:n.833+2T>C
NM_001374426.1:c.401+2T>C NP_001361355.1:n.401+2T>C
NM_001374427.1:c.344+2T>C NP_001361356.1:n.344+2T>C
NM_002617.3:c.776+2T>C NP_002608.1:n.776+2T>C
NM_153818.1:c.836+2T>C NP_722540.1:n.836+2T>C
NM_153818.2:c.836+2T>C NP_722540.1:n.836+2T>C
NR_164636.1:n.891+2T>C
ENST00000288774.7:c.836+2T>C ENSP00000288774.3:n.836+2T>C
ENST00000288774.8:c.836+2T>C ENSP00000288774.3:n.836+2T>C
ENST00000447513.6:c.776+2T>C ENSP00000407922.2:n.776+2T>C
ENST00000507596.5:c.776+2T>C ENSP00000424291.1:n.776+2T>C
ENST00000510434.1:c.*142+2T>C ENSP00000423051.1:n.*142+2T>C
ENST00000650293.1:c.730+2T>C
XM_011541573.1:c.833+2T>C XP_011539875.1:n.833+2T>C
XM_011541574.1:c.401+2T>C XP_011539876.1:n.401+2T>C
XM_011541575.1:c.401+2T>C XP_011539877.1:n.401+2T>C
XR_946666.1:n.892+2T>C
XR_946666.2:n.841+2T>C