Canonical Allele Identifier: CA337983982

Gene: PEX10

Linked Data

• gnomAD v4: 1-2406482-A-C
• MyVariant Identifiers: chr1:g.2337921A>C (hg19) ; chr1:g.2406482A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406482A>C , CM000663.2:g.2406482A>C	GRCh38
NC_000001.10:g.2337921A>C , CM000663.1:g.2337921A>C	GRCh37
NC_000001.9:g.2327781A>C	NCBI36
NG_008342.1:g.11090T>G
NG_016128.1:g.19708A>C

Transcript Alleles

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