Canonical Allele Identifier: CA245493

Gene: PEX10

Linked Data

• ClinVar Variation Id: 197386
• ClinVar RCV Id: RCV000178399 ; RCV000315166 ; RCV001086346 ; RCV001272161 ; RCV003907615
• dbSNP Id: rs199934621
• ExAC: 1:2338324 C / T
• gnomAD v2: 1-2338324-C-T
• gnomAD v3: 1-2406885-C-T
• gnomAD v4: 1-2406885-C-T
• MyVariant Identifiers: chr1:g.2338324C>T (hg19) ; chr1:g.2406885C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406885C>T , CM000663.2:g.2406885C>T	GRCh38
NC_000001.10:g.2338324C>T , CM000663.1:g.2338324C>T	GRCh37
NC_000001.9:g.2328184C>T	NCBI36
NG_008342.1:g.10687G>A
NG_016128.1:g.20111C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.671G>A	ENSP00000288774.3:p.Arg224His
ENST00000447513.7:c.611G>A MANE Select	ENSP00000407922.2:p.Arg204His
ENST00000650293.1:c.565G>A
ENST00000288774.7:c.671G>A	ENSP00000288774.3:p.Arg224His
ENST00000447513.6:c.611G>A	ENSP00000407922.2:p.Arg204His
ENST00000507596.5:c.611G>A	ENSP00000424291.1:p.Arg204His
ENST00000510434.1:c.607G>A	ENSP00000423051.1:p.Ala203Thr
NM_002617.3:c.611G>A	NP_002608.1:p.Arg204His
NM_153818.1:c.671G>A	NP_722540.1:p.Arg224His
XM_011541573.1:c.668G>A	XP_011539875.1:p.Arg223His
XM_011541574.1:c.236G>A	XP_011539876.1:p.Arg79His
XM_011541575.1:c.236G>A	XP_011539877.1:p.Arg79His
XR_946666.1:n.727G>A
XR_946666.2:n.676G>A
NM_001374425.1:c.668G>A	NP_001361354.1:p.Arg223His
NM_001374426.1:c.236G>A	NP_001361355.1:p.Arg79His
NM_001374427.1:c.179G>A	NP_001361356.1:p.Arg60His
NM_002617.4:c.611G>A MANE Select	NP_002608.1:p.Arg204His
NM_153818.2:c.671G>A	NP_722540.1:p.Arg224His
NR_164636.1:n.726G>A