Canonical Allele Identifier: CA538121

Gene: PEX10

Linked Data

• dbSNP Id: rs201828636
• ExAC: 1:2339868 T / G
• gnomAD v2: 1-2339868-T-G
• gnomAD v3: 1-2408429-T-G
• gnomAD v4: 1-2408429-T-G
• MyVariant Identifiers: chr1:g.2339868T>G (hg19) ; chr1:g.2408429T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408429T>G , CM000663.2:g.2408429T>G	GRCh38
NC_000001.10:g.2339868T>G , CM000663.1:g.2339868T>G	GRCh37
NC_000001.9:g.2329728T>G	NCBI36
NG_008342.1:g.9143A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.600+23A>C	ENSP00000288774.3:n.600+23A>C
ENST00000447513.7:c.600+23A>C MANE Select	ENSP00000407922.2:n.600+23A>C
ENST00000650293.1:c.554+23A>C
ENST00000288774.7:c.600+23A>C	ENSP00000288774.3:n.600+23A>C
ENST00000447513.6:c.600+23A>C	ENSP00000407922.2:n.600+23A>C
ENST00000507596.5:c.600+23A>C	ENSP00000424291.1:n.600+23A>C
ENST00000510434.1:c.596+27A>C	ENSP00000423051.1:n.596+27A>C
NM_002617.3:c.600+23A>C	NP_002608.1:n.600+23A>C
NM_153818.1:c.600+23A>C	NP_722540.1:n.600+23A>C
XM_011541573.1:c.600+23A>C	XP_011539875.1:n.600+23A>C
XM_011541574.1:c.168+23A>C	XP_011539876.1:n.168+23A>C
XM_011541575.1:c.168+23A>C	XP_011539877.1:n.168+23A>C
XM_011541576.1:c.596+27A>C	XP_011539878.1:n.596+27A>C
XR_946666.1:n.716+27A>C
XM_011541576.2:c.596+27A>C	XP_011539878.1:n.596+27A>C
XR_946666.2:n.665+27A>C
NM_001374425.1:c.600+23A>C	NP_001361354.1:n.600+23A>C
NM_001374426.1:c.168+23A>C	NP_001361355.1:n.168+23A>C
NM_001374427.1:c.168+23A>C	NP_001361356.1:n.168+23A>C
NM_002617.4:c.600+23A>C MANE Select	NP_002608.1:n.600+23A>C
NM_153818.2:c.600+23A>C	NP_722540.1:n.600+23A>C
NR_164636.1:n.715+27A>C