Canonical Allele Identifier: CA521014119

Gene: PEX10

Linked Data

• dbSNP Id: rs201328179
• gnomAD v2: 1-2338079-C-A
• gnomAD v4: 1-2406640-C-A
• MyVariant Identifiers: chr1:g.2338079C>A (hg19) ; chr1:g.2406640C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406640C>A , CM000663.2:g.2406640C>A	GRCh38
NC_000001.10:g.2338079C>A , CM000663.1:g.2338079C>A	GRCh37
NC_000001.9:g.2327939C>A	NCBI36
NG_008342.1:g.10932G>T
NG_016128.1:g.19866C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.837-21G>T	ENSP00000288774.3:n.837-21G>T
ENST00000447513.7:c.777-21G>T MANE Select	ENSP00000407922.2:n.777-21G>T
ENST00000650293.1:c.731-21G>T
ENST00000288774.7:c.837-21G>T	ENSP00000288774.3:n.837-21G>T
ENST00000447513.6:c.777-21G>T	ENSP00000407922.2:n.777-21G>T
ENST00000507596.5:c.777-21G>T	ENSP00000424291.1:n.777-21G>T
ENST00000510434.1:c.*143-21G>T	ENSP00000423051.1:n.*143-21G>T
NM_002617.3:c.777-21G>T	NP_002608.1:n.777-21G>T
NM_153818.1:c.837-21G>T	NP_722540.1:n.837-21G>T
XM_011541573.1:c.834-21G>T	XP_011539875.1:n.834-21G>T
XM_011541574.1:c.402-21G>T	XP_011539876.1:n.402-21G>T
XM_011541575.1:c.402-21G>T	XP_011539877.1:n.402-21G>T
XR_946666.1:n.893-21G>T
XR_946666.2:n.842-21G>T
NM_001374425.1:c.834-21G>T	NP_001361354.1:n.834-21G>T
NM_001374426.1:c.402-21G>T	NP_001361355.1:n.402-21G>T
NM_001374427.1:c.345-21G>T	NP_001361356.1:n.345-21G>T
NM_002617.4:c.777-21G>T MANE Select	NP_002608.1:n.777-21G>T
NM_153818.2:c.837-21G>T	NP_722540.1:n.837-21G>T
NR_164636.1:n.892-21G>T