Canonical Allele Identifier: CA337983988

Gene: PEX10

Linked Data

• MyVariant Identifiers: chr1:g.2337923C>A (hg19) ; chr1:g.2406484C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406484C>A , CM000663.2:g.2406484C>A	GRCh38
NC_000001.10:g.2337923C>A , CM000663.1:g.2337923C>A	GRCh37
NC_000001.9:g.2327783C>A	NCBI36
NG_008342.1:g.11088G>T
NG_016128.1:g.19710C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.972G>T	ENSP00000288774.3:p.Lys324Asn
ENST00000447513.7:c.912G>T MANE Select	ENSP00000407922.2:p.Lys304Asn
ENST00000650293.1:c.866G>T
ENST00000288774.7:c.972G>T	ENSP00000288774.3:p.Lys324Asn
ENST00000447513.6:c.912G>T	ENSP00000407922.2:p.Lys304Asn
ENST00000507596.5:c.912G>T	ENSP00000424291.1:p.Lys304Asn
NM_002617.3:c.912G>T	NP_002608.1:p.Lys304Asn
NM_153818.1:c.972G>T	NP_722540.1:p.Lys324Asn
XM_011541573.1:c.969G>T	XP_011539875.1:p.Lys323Asn
XM_011541574.1:c.537G>T	XP_011539876.1:p.Lys179Asn
XM_011541575.1:c.537G>T	XP_011539877.1:p.Lys179Asn
XR_946666.1:n.1028G>T
XR_946666.2:n.977G>T
NM_001374425.1:c.969G>T	NP_001361354.1:p.Lys323Asn
NM_001374426.1:c.537G>T	NP_001361355.1:p.Lys179Asn
NM_001374427.1:c.480G>T	NP_001361356.1:p.Lys160Asn
NM_002617.4:c.912G>T MANE Select	NP_002608.1:p.Lys304Asn
NM_153818.2:c.972G>T	NP_722540.1:p.Lys324Asn
NR_164636.1:n.1027G>T