Canonical Allele Identifier: CA337987020

Gene: PEX10

Linked Data

• gnomAD v4: 1-2408486-T-G
• MyVariant Identifiers: chr1:g.2339925T>G (hg19) ; chr1:g.2408486T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408486T>G , CM000663.2:g.2408486T>G	GRCh38
NC_000001.10:g.2339925T>G , CM000663.1:g.2339925T>G	GRCh37
NC_000001.9:g.2329785T>G	NCBI36
NG_008342.1:g.9086A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.566A>C	ENSP00000288774.3:p.Tyr189Ser
ENST00000447513.7:c.566A>C MANE Select	ENSP00000407922.2:p.Tyr189Ser
ENST00000650293.1:c.520A>C
ENST00000288774.7:c.566A>C	ENSP00000288774.3:p.Tyr189Ser
ENST00000447513.6:c.566A>C	ENSP00000407922.2:p.Tyr189Ser
ENST00000507596.5:c.566A>C	ENSP00000424291.1:p.Tyr189Ser
ENST00000510434.1:c.566A>C	ENSP00000423051.1:p.Tyr189Ser
NM_002617.3:c.566A>C	NP_002608.1:p.Tyr189Ser
NM_153818.1:c.566A>C	NP_722540.1:p.Tyr189Ser
XM_011541573.1:c.566A>C	XP_011539875.1:p.Tyr189Ser
XM_011541574.1:c.134A>C	XP_011539876.1:p.Tyr45Ser
XM_011541575.1:c.134A>C	XP_011539877.1:p.Tyr45Ser
XM_011541576.1:c.566A>C	XP_011539878.1:p.Tyr189Ser
XR_946666.1:n.686A>C
XM_011541576.2:c.566A>C	XP_011539878.1:p.Tyr189Ser
XR_946666.2:n.635A>C
NM_001374425.1:c.566A>C	NP_001361354.1:p.Tyr189Ser
NM_001374426.1:c.134A>C	NP_001361355.1:p.Tyr45Ser
NM_001374427.1:c.134A>C	NP_001361356.1:p.Tyr45Ser
NM_002617.4:c.566A>C MANE Select	NP_002608.1:p.Tyr189Ser
NM_153818.2:c.566A>C	NP_722540.1:p.Tyr189Ser
NR_164636.1:n.685A>C