Canonical Allele Identifier: CA537972

Gene: PEX10

Linked Data

• dbSNP Id: rs534664201
• ExAC: 1:2337880 C / T
• gnomAD v2: 1-2337880-C-T
• gnomAD v3: 1-2406441-C-T
• gnomAD v4: 1-2406441-C-T
• MyVariant Identifiers: chr1:g.2337880C>T (hg19) ; chr1:g.2406441C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406441C>T , CM000663.2:g.2406441C>T	GRCh38
NC_000001.10:g.2337880C>T , CM000663.1:g.2337880C>T	GRCh37
NC_000001.9:g.2327740C>T	NCBI36
NG_008342.1:g.11131G>A
NG_016128.1:g.19667C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.972+43G>A	ENSP00000288774.3:n.972+43G>A
ENST00000447513.7:c.912+43G>A MANE Select	ENSP00000407922.2:n.912+43G>A
ENST00000650293.1:c.866+43G>A
ENST00000288774.7:c.972+43G>A	ENSP00000288774.3:n.972+43G>A
ENST00000447513.6:c.912+43G>A	ENSP00000407922.2:n.912+43G>A
ENST00000507596.5:c.912+43G>A	ENSP00000424291.1:n.912+43G>A
NM_002617.3:c.912+43G>A	NP_002608.1:n.912+43G>A
NM_153818.1:c.972+43G>A	NP_722540.1:n.972+43G>A
XM_011541573.1:c.969+43G>A	XP_011539875.1:n.969+43G>A
XM_011541574.1:c.537+43G>A	XP_011539876.1:n.537+43G>A
XM_011541575.1:c.537+43G>A	XP_011539877.1:n.537+43G>A
XR_946666.1:n.1028+43G>A
XR_946666.2:n.977+43G>A
NM_001374425.1:c.969+43G>A	NP_001361354.1:n.969+43G>A
NM_001374426.1:c.537+43G>A	NP_001361355.1:n.537+43G>A
NM_001374427.1:c.480+43G>A	NP_001361356.1:n.480+43G>A
NM_002617.4:c.912+43G>A MANE Select	NP_002608.1:n.912+43G>A
NM_153818.2:c.972+43G>A	NP_722540.1:n.972+43G>A
NR_164636.1:n.1027+43G>A