Canonical Allele Identifier: CA415775454
Gene: PEX10 HGNC NCBI

Linked Data

ClinVar Variation Id: 874478
ClinVar RCV Id: RCV001097467
dbSNP Id: rs368439785
MyVariant Identifiers: chr1:g.2338167A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2406728A>T , CM000663.2:g.2406728A>T GRCh38
NC_000001.10:g.2338167A>T , CM000663.1:g.2338167A>T GRCh37
NC_000001.9:g.2328027A>T NCBI36
NG_008342.1:g.10844T>A
NG_016128.1:g.19954A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000288774.8:c.828T>A ENSP00000288774.3:p.Ser276=
ENST00000447513.7:c.768T>A MANE Select ENSP00000407922.2:p.Ser256=
ENST00000650293.1:c.722T>A
ENST00000288774.7:c.828T>A ENSP00000288774.3:p.Ser276=
ENST00000447513.6:c.768T>A ENSP00000407922.2:p.Ser256=
ENST00000507596.5:c.768T>A ENSP00000424291.1:p.Ser256=
ENST00000510434.1:c.*134T>A ENSP00000423051.1:n.*134T>A
NM_002617.3:c.768T>A NP_002608.1:p.Ser256=
NM_153818.1:c.828T>A NP_722540.1:p.Ser276=
XM_011541573.1:c.825T>A XP_011539875.1:p.Ser275=
XM_011541574.1:c.393T>A XP_011539876.1:p.Ser131=
XM_011541575.1:c.393T>A XP_011539877.1:p.Ser131=
XR_946666.1:n.884T>A
XR_946666.2:n.833T>A
NM_001374425.1:c.825T>A NP_001361354.1:p.Ser275=
NM_001374426.1:c.393T>A NP_001361355.1:p.Ser131=
NM_001374427.1:c.336T>A NP_001361356.1:p.Ser112=
NM_002617.4:c.768T>A MANE Select NP_002608.1:p.Ser256=
NM_153818.2:c.828T>A NP_722540.1:p.Ser276=
NR_164636.1:n.883T>A