Canonical Allele Identifier: CA16942804

Gene: PEX10

Linked Data

• dbSNP Id: rs948369559
• gnomAD v3: 1-2406429-A-G
• gnomAD v4: 1-2406429-A-G
• MyVariant Identifiers: chr1:g.2337868A>G (hg19) ; chr1:g.2406429A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406429A>G , CM000663.2:g.2406429A>G	GRCh38
NC_000001.10:g.2337868A>G , CM000663.1:g.2337868A>G	GRCh37
NC_000001.9:g.2327728A>G	NCBI36
NG_008342.1:g.11143T>C
NG_016128.1:g.19655A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.972+55T>C	ENSP00000288774.3:n.972+55T>C
ENST00000447513.7:c.912+55T>C MANE Select	ENSP00000407922.2:n.912+55T>C
ENST00000650293.1:c.866+55T>C
ENST00000288774.7:c.972+55T>C	ENSP00000288774.3:n.972+55T>C
ENST00000447513.6:c.912+55T>C	ENSP00000407922.2:n.912+55T>C
ENST00000507596.5:c.912+55T>C	ENSP00000424291.1:n.912+55T>C
NM_002617.3:c.912+55T>C	NP_002608.1:n.912+55T>C
NM_153818.1:c.972+55T>C	NP_722540.1:n.972+55T>C
XM_011541573.1:c.969+55T>C	XP_011539875.1:n.969+55T>C
XM_011541574.1:c.537+55T>C	XP_011539876.1:n.537+55T>C
XM_011541575.1:c.537+55T>C	XP_011539877.1:n.537+55T>C
XR_946666.1:n.1028+55T>C
XR_946666.2:n.977+55T>C
NM_001374425.1:c.969+55T>C	NP_001361354.1:n.969+55T>C
NM_001374426.1:c.537+55T>C	NP_001361355.1:n.537+55T>C
NM_001374427.1:c.480+55T>C	NP_001361356.1:n.480+55T>C
NM_002617.4:c.912+55T>C MANE Select	NP_002608.1:n.912+55T>C
NM_153818.2:c.972+55T>C	NP_722540.1:n.972+55T>C
NR_164636.1:n.1027+55T>C