Canonical Allele Identifier: CA337985805
Community Standard Title: NM_002617.4(PEX10):c.601-3C>T
Gene: PEX10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2406898G>A , CM000663.2:g.2406898G>A GRCh38
NC_000001.10:g.2338337G>A , CM000663.1:g.2338337G>A GRCh37
NC_000001.9:g.2328197G>A NCBI36
NG_008342.1:g.10674C>T
NG_016128.1:g.20124G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002617.4:c.601-3C>T MANE Select NP_002608.1:n.601-3C>T
ENST00000447513.7:c.601-3C>T MANE Select ENSP00000407922.2:n.601-3C>T
NM_001374425.1:c.655C>T NP_001361354.1:p.Gln219Ter
NM_001374426.1:c.223C>T NP_001361355.1:p.Gln75Ter
NM_001374427.1:c.169-3C>T NP_001361356.1:n.169-3C>T
NM_002617.3:c.601-3C>T NP_002608.1:n.601-3C>T
NM_153818.1:c.658C>T NP_722540.1:p.Gln220Ter
NM_153818.2:c.658C>T NP_722540.1:p.Gln220Ter
NR_164636.1:n.716-3C>T
ENST00000288774.7:c.658C>T ENSP00000288774.3:p.Gln220Ter
ENST00000288774.8:c.658C>T ENSP00000288774.3:p.Gln220Ter
ENST00000447513.6:c.601-3C>T ENSP00000407922.2:n.601-3C>T
ENST00000507596.5:c.601-3C>T ENSP00000424291.1:n.601-3C>T
ENST00000510434.1:c.597-3C>T ENSP00000423051.1:n.597-3C>T
ENST00000650293.1:c.555-3C>T
XM_011541573.1:c.655C>T XP_011539875.1:p.Gln219Ter
XM_011541574.1:c.223C>T XP_011539876.1:p.Gln75Ter
XM_011541575.1:c.223C>T XP_011539877.1:p.Gln75Ter
XR_946666.1:n.717-3C>T
XR_946666.2:n.666-3C>T