Canonical Allele Identifier: CA537953

Gene: PEX10

Linked Data

• ClinVar Variation Id: 286858
• ClinVar RCV Id: RCV000393024 ; RCV001082724 ; RCV001101219 ; RCV001277100
• dbSNP Id: rs374891812
• ExAC: 1:2337271 C / T
• gnomAD v2: 1-2337271-C-T
• gnomAD v3: 1-2405832-C-T
• gnomAD v4: 1-2405832-C-T
• MyVariant Identifiers: chr1:g.2337271C>T (hg19) ; chr1:g.2405832C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2405832C>T , CM000663.2:g.2405832C>T	GRCh38
NC_000001.10:g.2337271C>T , CM000663.1:g.2337271C>T	GRCh37
NC_000001.9:g.2327131C>T	NCBI36
NG_008342.1:g.11740G>A
NG_016128.1:g.19058C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.975G>A	ENSP00000288774.3:p.Ala325=
ENST00000447513.7:c.915G>A MANE Select	ENSP00000407922.2:p.Ala305=
ENST00000650293.1:c.869G>A
ENST00000288774.7:c.975G>A	ENSP00000288774.3:p.Ala325=
ENST00000447513.6:c.915G>A	ENSP00000407922.2:p.Ala305=
ENST00000507596.5:c.913-4G>A	ENSP00000424291.1:n.913-4G>A
NM_002617.3:c.915G>A	NP_002608.1:p.Ala305=
NM_153818.1:c.975G>A	NP_722540.1:p.Ala325=
XM_011541573.1:c.972G>A	XP_011539875.1:p.Ala324=
XM_011541574.1:c.540G>A	XP_011539876.1:p.Ala180=
XM_011541575.1:c.540G>A	XP_011539877.1:p.Ala180=
XR_946666.1:n.1031G>A
XR_946666.2:n.980G>A
NM_001374425.1:c.972G>A	NP_001361354.1:p.Ala324=
NM_001374426.1:c.540G>A	NP_001361355.1:p.Ala180=
NM_001374427.1:c.483G>A	NP_001361356.1:p.Ala161=
NM_002617.4:c.915G>A MANE Select	NP_002608.1:p.Ala305=
NM_153818.2:c.975G>A	NP_722540.1:p.Ala325=
NR_164636.1:n.1030G>A