Canonical Allele Identifier: CA337984490
Community Standard Title: NM_002617.4(PEX10):c.826T>A (p.Cys276Ser)
Gene: PEX10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2406570A>T , CM000663.2:g.2406570A>T GRCh38
NC_000001.10:g.2338009A>T , CM000663.1:g.2338009A>T GRCh37
NC_000001.9:g.2327869A>T NCBI36
NG_008342.1:g.11002T>A
NG_016128.1:g.19796A>T

Transcript Alleles

HGVS Amino-acid Change
NM_002617.4:c.826T>A MANE Select NP_002608.1:p.Cys276Ser
ENST00000447513.7:c.826T>A MANE Select ENSP00000407922.2:p.Cys276Ser
NM_001374425.1:c.883T>A NP_001361354.1:p.Cys295Ser
NM_001374426.1:c.451T>A NP_001361355.1:p.Cys151Ser
NM_001374427.1:c.394T>A NP_001361356.1:p.Cys132Ser
NM_002617.3:c.826T>A NP_002608.1:p.Cys276Ser
NM_153818.1:c.886T>A NP_722540.1:p.Cys296Ser
NM_153818.2:c.886T>A NP_722540.1:p.Cys296Ser
NR_164636.1:n.941T>A
ENST00000288774.7:c.886T>A ENSP00000288774.3:p.Cys296Ser
ENST00000288774.8:c.886T>A ENSP00000288774.3:p.Cys296Ser
ENST00000447513.6:c.826T>A ENSP00000407922.2:p.Cys276Ser
ENST00000507596.5:c.826T>A ENSP00000424291.1:p.Cys276Ser
ENST00000510434.1:c.*192T>A ENSP00000423051.1:n.*192T>A
ENST00000650293.1:c.780T>A
XM_011541573.1:c.883T>A XP_011539875.1:p.Cys295Ser
XM_011541574.1:c.451T>A XP_011539876.1:p.Cys151Ser
XM_011541575.1:c.451T>A XP_011539877.1:p.Cys151Ser
XR_946666.1:n.942T>A
XR_946666.2:n.891T>A