Canonical Allele Identifier: CA338339252

Gene: PEX14

Linked Data

• MyVariant Identifiers: chr1:g.10689903T>A (hg19) ; chr1:g.10629846T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10629846T>A , CM000663.2:g.10629846T>A	GRCh38
NC_000001.10:g.10689903T>A , CM000663.1:g.10689903T>A	GRCh37
NC_000001.9:g.10612490T>A	NCBI36
NG_008340.1:g.159901T>A
NG_008340.2:g.159901T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356607.9:c.993T>A MANE Select	ENSP00000349016.4:p.Asp331Glu
ENST00000356607.8:c.993T>A	ENSP00000349016.4:p.Asp331Glu
NM_004565.2:c.993T>A	NP_004556.1:p.Asp331Glu
XM_005263470.3:c.801T>A	XP_005263527.1:p.Asp267Glu
XM_011541577.1:c.1035T>A	XP_011539879.1:p.Asp345Glu
XM_011541578.1:c.936T>A	XP_011539880.1:p.Asp312Glu
XM_011541579.1:c.906T>A	XP_011539881.1:p.Asp302Glu
XM_011541580.1:c.864T>A	XP_011539882.1:p.Asp288Glu
XM_005263470.5:c.801T>A	XP_005263527.1:p.Asp267Glu
XM_011541577.2:c.1035T>A	XP_011539879.1:p.Asp345Glu
XM_011541578.2:c.936T>A	XP_011539880.1:p.Asp312Glu
XM_011541579.3:c.906T>A	XP_011539881.1:p.Asp302Glu
XM_024447651.1:c.801T>A	XP_024303419.1:p.Asp267Glu
NM_004565.3:c.993T>A MANE Select	NP_004556.1:p.Asp331Glu