Canonical Allele Identifier: CA337982898
Community Standard Title: NM_002617.4(PEX10):c.952A>G (p.Lys318Glu)
Gene: PEX10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2405795T>C , CM000663.2:g.2405795T>C GRCh38
NC_000001.10:g.2337234T>C , CM000663.1:g.2337234T>C GRCh37
NC_000001.9:g.2327094T>C NCBI36
NG_008342.1:g.11777A>G
NG_016128.1:g.19021T>C

Transcript Alleles

HGVS Amino-acid Change
NM_002617.4:c.952A>G MANE Select NP_002608.1:p.Lys318Glu
ENST00000447513.7:c.952A>G MANE Select ENSP00000407922.2:p.Lys318Glu
NM_001374425.1:c.1009A>G NP_001361354.1:p.Lys337Glu
NM_001374426.1:c.577A>G NP_001361355.1:p.Lys193Glu
NM_001374427.1:c.520A>G NP_001361356.1:p.Lys174Glu
NM_002617.3:c.952A>G NP_002608.1:p.Lys318Glu
NM_153818.1:c.1012A>G NP_722540.1:p.Lys338Glu
NM_153818.2:c.1012A>G NP_722540.1:p.Lys338Glu
NR_164636.1:n.1067A>G
ENST00000288774.7:c.1012A>G ENSP00000288774.3:p.Lys338Glu
ENST00000288774.8:c.1012A>G ENSP00000288774.3:p.Lys338Glu
ENST00000447513.6:c.952A>G ENSP00000407922.2:p.Lys318Glu
ENST00000507596.5:c.946A>G ENSP00000424291.1:p.Lys316Glu
ENST00000650293.1:c.906A>G
XM_011541573.1:c.1009A>G XP_011539875.1:p.Lys337Glu
XM_011541574.1:c.577A>G XP_011539876.1:p.Lys193Glu
XM_011541575.1:c.577A>G XP_011539877.1:p.Lys193Glu
XR_946666.1:n.1068A>G
XR_946666.2:n.1017A>G