Canonical Allele Identifier: CA520680063
Community Standard Title: NM_002617.4(PEX10):c.112+11G>T
Gene: PEX10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2412380C>A , CM000663.2:g.2412380C>A GRCh38
NC_000001.10:g.2343819C>A , CM000663.1:g.2343819C>A GRCh37
NC_000001.9:g.2333679C>A NCBI36
NG_008342.1:g.5192G>T

Transcript Alleles

HGVS Amino-acid Change
NM_002617.4:c.112+11G>T MANE Select NP_002608.1:n.112+11G>T
ENST00000447513.7:c.112+11G>T MANE Select ENSP00000407922.2:n.112+11G>T
NM_001374425.1:c.112+11G>T NP_001361354.1:n.112+11G>T
NM_001374426.1:c.-321+1217G>T NP_001361355.1:n.-321+1217G>T
NM_001374427.1:c.-321+1217G>T NP_001361356.1:n.-321+1217G>T
NM_002617.3:c.112+11G>T NP_002608.1:n.112+11G>T
NM_153818.1:c.112+11G>T NP_722540.1:n.112+11G>T
NM_153818.2:c.112+11G>T NP_722540.1:n.112+11G>T
NR_164636.1:n.231+1217G>T
ENST00000288774.7:c.112+11G>T ENSP00000288774.3:n.112+11G>T
ENST00000288774.8:c.112+11G>T ENSP00000288774.3:n.112+11G>T
ENST00000447513.6:c.112+11G>T ENSP00000407922.2:n.112+11G>T
ENST00000507596.5:c.112+11G>T ENSP00000424291.1:n.112+11G>T
ENST00000508384.5:c.-321+1217G>T ENSP00000464289.1:n.-321+1217G>T
ENST00000510434.1:c.112+11G>T ENSP00000423051.1:n.112+11G>T
ENST00000514502.1:c.112+11G>T ENSP00000425924.1:n.112+11G>T
ENST00000650293.1:c.66+11G>T
XM_011541573.1:c.112+11G>T XP_011539875.1:n.112+11G>T
XM_011541575.1:c.-321+1217G>T XP_011539877.1:n.-321+1217G>T
XM_011541576.1:c.112+11G>T XP_011539878.1:n.112+11G>T
XM_011541576.2:c.112+11G>T XP_011539878.1:n.112+11G>T
XR_946666.1:n.232+11G>T
XR_946666.2:n.181+11G>T