Canonical Allele Identifier: CA415775883

Gene: PEX10

Linked Data

• gnomAD v4: 1-2408785-C-A
• MyVariant Identifiers: chr1:g.2340224C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408785C>A , CM000663.2:g.2408785C>A	GRCh38
NC_000001.10:g.2340224C>A , CM000663.1:g.2340224C>A	GRCh37
NC_000001.9:g.2330084C>A	NCBI36
NG_008342.1:g.8787G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000288774.8:c.267G>T	ENSP00000288774.3:p.Ser89=
ENST00000447513.7:c.267G>T MANE Select	ENSP00000407922.2:p.Ser89=
ENST00000650293.1:c.221G>T
ENST00000288774.7:c.267G>T	ENSP00000288774.3:p.Ser89=
ENST00000447513.6:c.267G>T	ENSP00000407922.2:p.Ser89=
ENST00000502666.1:c.472G>T	ENSP00000461951.1:n.472G>T
ENST00000507596.5:c.267G>T	ENSP00000424291.1:p.Ser89=
ENST00000508384.5:c.-166G>T	ENSP00000464289.1:n.-166G>T
ENST00000510434.1:c.267G>T	ENSP00000423051.1:p.Ser89=
ENST00000514502.1:c.*284G>T	ENSP00000425924.1:n.*284G>T
ENST00000515760.1:n.401G>T
NM_002617.3:c.267G>T	NP_002608.1:p.Ser89=
NM_153818.1:c.267G>T	NP_722540.1:p.Ser89=
XM_011541573.1:c.267G>T	XP_011539875.1:p.Ser89=
XM_011541574.1:c.-166G>T	XP_011539876.1:n.-166G>T
XM_011541575.1:c.-166G>T	XP_011539877.1:n.-166G>T
XM_011541576.1:c.267G>T	XP_011539878.1:p.Ser89=
XR_946666.1:n.387G>T
XM_011541576.2:c.267G>T	XP_011539878.1:p.Ser89=
XR_946666.2:n.336G>T
NM_001374425.1:c.267G>T	NP_001361354.1:p.Ser89=
NM_001374426.1:c.-166G>T	NP_001361355.1:n.-166G>T
NM_001374427.1:c.-166G>T	NP_001361356.1:n.-166G>T
NM_002617.4:c.267G>T MANE Select	NP_002608.1:p.Ser89=
NM_153818.2:c.267G>T	NP_722540.1:p.Ser89=
NR_164636.1:n.386G>T