Canonical Allele Identifier: CA337988969

Gene: PEX10

Linked Data

• gnomAD v4: 1-2408808-A-G
• MyVariant Identifiers: chr1:g.2340247A>G (hg19) ; chr1:g.2408808A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408808A>G , CM000663.2:g.2408808A>G	GRCh38
NC_000001.10:g.2340247A>G , CM000663.1:g.2340247A>G	GRCh37
NC_000001.9:g.2330107A>G	NCBI36
NG_008342.1:g.8764T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.244T>C	ENSP00000288774.3:p.Ser82Pro
ENST00000447513.7:c.244T>C MANE Select	ENSP00000407922.2:p.Ser82Pro
ENST00000650293.1:c.198T>C
ENST00000288774.7:c.244T>C	ENSP00000288774.3:p.Ser82Pro
ENST00000447513.6:c.244T>C	ENSP00000407922.2:p.Ser82Pro
ENST00000502666.1:c.449T>C	ENSP00000461951.1:n.449T>C
ENST00000507596.5:c.244T>C	ENSP00000424291.1:p.Ser82Pro
ENST00000508384.5:c.-189T>C	ENSP00000464289.1:n.-189T>C
ENST00000510434.1:c.244T>C	ENSP00000423051.1:p.Ser82Pro
ENST00000514502.1:c.*261T>C	ENSP00000425924.1:n.*261T>C
ENST00000515760.1:n.378T>C
NM_002617.3:c.244T>C	NP_002608.1:p.Ser82Pro
NM_153818.1:c.244T>C	NP_722540.1:p.Ser82Pro
XM_011541573.1:c.244T>C	XP_011539875.1:p.Ser82Pro
XM_011541574.1:c.-189T>C	XP_011539876.1:n.-189T>C
XM_011541575.1:c.-189T>C	XP_011539877.1:n.-189T>C
XM_011541576.1:c.244T>C	XP_011539878.1:p.Ser82Pro
XR_946666.1:n.364T>C
XM_011541576.2:c.244T>C	XP_011539878.1:p.Ser82Pro
XR_946666.2:n.313T>C
NM_001374425.1:c.244T>C	NP_001361354.1:p.Ser82Pro
NM_001374426.1:c.-189T>C	NP_001361355.1:n.-189T>C
NM_001374427.1:c.-189T>C	NP_001361356.1:n.-189T>C
NM_002617.4:c.244T>C MANE Select	NP_002608.1:p.Ser82Pro
NM_153818.2:c.244T>C	NP_722540.1:p.Ser82Pro
NR_164636.1:n.363T>C