Canonical Allele Identifier: CA337988294

Gene: PEX10

Linked Data

• dbSNP Id: rs1431316349
• gnomAD v2: 1-2340124-T-C
• gnomAD v3: 1-2408685-T-C
• gnomAD v4: 1-2408685-T-C
• MyVariant Identifiers: chr1:g.2340124T>C (hg19) ; chr1:g.2408685T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408685T>C , CM000663.2:g.2408685T>C	GRCh38
NC_000001.10:g.2340124T>C , CM000663.1:g.2340124T>C	GRCh37
NC_000001.9:g.2329984T>C	NCBI36
NG_008342.1:g.8887A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000288774.8:c.367A>G	ENSP00000288774.3:p.Ser123Gly
ENST00000447513.7:c.367A>G MANE Select	ENSP00000407922.2:p.Ser123Gly
ENST00000650293.1:c.321A>G
ENST00000288774.7:c.367A>G	ENSP00000288774.3:p.Ser123Gly
ENST00000447513.6:c.367A>G	ENSP00000407922.2:p.Ser123Gly
ENST00000502666.1:c.572A>G	ENSP00000461951.1:n.572A>G
ENST00000507596.5:c.367A>G	ENSP00000424291.1:p.Ser123Gly
ENST00000508384.5:c.-66A>G	ENSP00000464289.1:n.-66A>G
ENST00000510434.1:c.367A>G	ENSP00000423051.1:p.Ser123Gly
ENST00000515760.1:n.501A>G
NM_002617.3:c.367A>G	NP_002608.1:p.Ser123Gly
NM_153818.1:c.367A>G	NP_722540.1:p.Ser123Gly
XM_011541573.1:c.367A>G	XP_011539875.1:p.Ser123Gly
XM_011541574.1:c.-66A>G	XP_011539876.1:n.-66A>G
XM_011541575.1:c.-66A>G	XP_011539877.1:n.-66A>G
XM_011541576.1:c.367A>G	XP_011539878.1:p.Ser123Gly
XR_946666.1:n.487A>G
XM_011541576.2:c.367A>G	XP_011539878.1:p.Ser123Gly
XR_946666.2:n.436A>G
NM_001374425.1:c.367A>G	NP_001361354.1:p.Ser123Gly
NM_001374426.1:c.-66A>G	NP_001361355.1:n.-66A>G
NM_001374427.1:c.-66A>G	NP_001361356.1:n.-66A>G
NM_002617.4:c.367A>G MANE Select	NP_002608.1:p.Ser123Gly
NM_153818.2:c.367A>G	NP_722540.1:p.Ser123Gly
NR_164636.1:n.486A>G