Canonical Allele Identifier: CA337986930

Gene: PEX10

Linked Data

• MyVariant Identifiers: chr1:g.2339912C>G (hg19) ; chr1:g.2408473C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408473C>G , CM000663.2:g.2408473C>G	GRCh38
NC_000001.10:g.2339912C>G , CM000663.1:g.2339912C>G	GRCh37
NC_000001.9:g.2329772C>G	NCBI36
NG_008342.1:g.9099G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.579G>C	ENSP00000288774.3:p.Lys193Asn
ENST00000447513.7:c.579G>C MANE Select	ENSP00000407922.2:p.Lys193Asn
ENST00000650293.1:c.533G>C
ENST00000288774.7:c.579G>C	ENSP00000288774.3:p.Lys193Asn
ENST00000447513.6:c.579G>C	ENSP00000407922.2:p.Lys193Asn
ENST00000507596.5:c.579G>C	ENSP00000424291.1:p.Lys193Asn
ENST00000510434.1:c.579G>C	ENSP00000423051.1:p.Lys193Asn
NM_002617.3:c.579G>C	NP_002608.1:p.Lys193Asn
NM_153818.1:c.579G>C	NP_722540.1:p.Lys193Asn
XM_011541573.1:c.579G>C	XP_011539875.1:p.Lys193Asn
XM_011541574.1:c.147G>C	XP_011539876.1:p.Lys49Asn
XM_011541575.1:c.147G>C	XP_011539877.1:p.Lys49Asn
XM_011541576.1:c.579G>C	XP_011539878.1:p.Lys193Asn
XR_946666.1:n.699G>C
XM_011541576.2:c.579G>C	XP_011539878.1:p.Lys193Asn
XR_946666.2:n.648G>C
NM_001374425.1:c.579G>C	NP_001361354.1:p.Lys193Asn
NM_001374426.1:c.147G>C	NP_001361355.1:p.Lys49Asn
NM_001374427.1:c.147G>C	NP_001361356.1:p.Lys49Asn
NM_002617.4:c.579G>C MANE Select	NP_002608.1:p.Lys193Asn
NM_153818.2:c.579G>C	NP_722540.1:p.Lys193Asn
NR_164636.1:n.698G>C