Canonical Allele Identifier: CA337989553
Community Standard Title: NM_002617.4(PEX10):c.113-1G>C
Gene: PEX10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2410452C>G , CM000663.2:g.2410452C>G GRCh38
NC_000001.10:g.2341891C>G , CM000663.1:g.2341891C>G GRCh37
NC_000001.9:g.2331751C>G NCBI36
NG_008342.1:g.7120G>C

Transcript Alleles

HGVS Amino-acid Change
NM_002617.4:c.113-1G>C MANE Select NP_002608.1:n.113-1G>C
ENST00000447513.7:c.113-1G>C MANE Select ENSP00000407922.2:n.113-1G>C
NM_001374425.1:c.113-1G>C NP_001361354.1:n.113-1G>C
NM_001374426.1:c.-320-1G>C NP_001361355.1:n.-320-1G>C
NM_001374427.1:c.-320-1G>C NP_001361356.1:n.-320-1G>C
NM_002617.3:c.113-1G>C NP_002608.1:n.113-1G>C
NM_153818.1:c.113-1G>C NP_722540.1:n.113-1G>C
NM_153818.2:c.113-1G>C NP_722540.1:n.113-1G>C
NR_164636.1:n.232-1G>C
ENST00000288774.7:c.113-1G>C ENSP00000288774.3:n.113-1G>C
ENST00000288774.8:c.113-1G>C ENSP00000288774.3:n.113-1G>C
ENST00000447513.6:c.113-1G>C ENSP00000407922.2:n.113-1G>C
ENST00000502666.1:c.208-1G>C ENSP00000461951.1:n.208-1G>C
ENST00000507596.5:c.113-1G>C ENSP00000424291.1:n.113-1G>C
ENST00000508384.5:c.-320-1G>C ENSP00000464289.1:n.-320-1G>C
ENST00000510434.1:c.113-1G>C ENSP00000423051.1:n.113-1G>C
ENST00000514502.1:c.*130-1G>C ENSP00000425924.1:n.*130-1G>C
ENST00000650293.1:c.67-1G>C
XM_011541573.1:c.113-1G>C XP_011539875.1:n.113-1G>C
XM_011541574.1:c.-320-1G>C XP_011539876.1:n.-320-1G>C
XM_011541575.1:c.-320-1G>C XP_011539877.1:n.-320-1G>C
XM_011541576.1:c.113-1G>C XP_011539878.1:n.113-1G>C
XM_011541576.2:c.113-1G>C XP_011539878.1:n.113-1G>C
XR_946666.1:n.233-1G>C
XR_946666.2:n.182-1G>C