Canonical Allele Identifier: CA415775804

Gene: PEX10

Linked Data

• gnomAD v4: 1-2408769-G-A
• MyVariant Identifiers: chr1:g.2340208G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408769G>A , CM000663.2:g.2408769G>A	GRCh38
NC_000001.10:g.2340208G>A , CM000663.1:g.2340208G>A	GRCh37
NC_000001.9:g.2330068G>A	NCBI36
NG_008342.1:g.8803C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.283C>T	ENSP00000288774.3:p.Leu95=
ENST00000447513.7:c.283C>T MANE Select	ENSP00000407922.2:p.Leu95=
ENST00000650293.1:c.237C>T
ENST00000288774.7:c.283C>T	ENSP00000288774.3:p.Leu95=
ENST00000447513.6:c.283C>T	ENSP00000407922.2:p.Leu95=
ENST00000502666.1:c.488C>T	ENSP00000461951.1:n.488C>T
ENST00000507596.5:c.283C>T	ENSP00000424291.1:p.Leu95=
ENST00000508384.5:c.-150C>T	ENSP00000464289.1:n.-150C>T
ENST00000510434.1:c.283C>T	ENSP00000423051.1:p.Leu95=
ENST00000514502.1:c.*300C>T	ENSP00000425924.1:n.*300C>T
ENST00000515760.1:n.417C>T
NM_002617.3:c.283C>T	NP_002608.1:p.Leu95=
NM_153818.1:c.283C>T	NP_722540.1:p.Leu95=
XM_011541573.1:c.283C>T	XP_011539875.1:p.Leu95=
XM_011541574.1:c.-150C>T	XP_011539876.1:n.-150C>T
XM_011541575.1:c.-150C>T	XP_011539877.1:n.-150C>T
XM_011541576.1:c.283C>T	XP_011539878.1:p.Leu95=
XR_946666.1:n.403C>T
XM_011541576.2:c.283C>T	XP_011539878.1:p.Leu95=
XR_946666.2:n.352C>T
NM_001374425.1:c.283C>T	NP_001361354.1:p.Leu95=
NM_001374426.1:c.-150C>T	NP_001361355.1:n.-150C>T
NM_001374427.1:c.-150C>T	NP_001361356.1:n.-150C>T
NM_002617.4:c.283C>T MANE Select	NP_002608.1:p.Leu95=
NM_153818.2:c.283C>T	NP_722540.1:p.Leu95=
NR_164636.1:n.402C>T