Canonical Allele Identifier: CA415775788
Gene: PEX10 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.2340203C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2408764C>A , CM000663.2:g.2408764C>A GRCh38
NC_000001.10:g.2340203C>A , CM000663.1:g.2340203C>A GRCh37
NC_000001.9:g.2330063C>A NCBI36
NG_008342.1:g.8808G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000288774.8:c.288G>T ENSP00000288774.3:p.Val96=
ENST00000447513.7:c.288G>T MANE Select ENSP00000407922.2:p.Val96=
ENST00000650293.1:c.242G>T
ENST00000288774.7:c.288G>T ENSP00000288774.3:p.Val96=
ENST00000447513.6:c.288G>T ENSP00000407922.2:p.Val96=
ENST00000502666.1:c.493G>T ENSP00000461951.1:n.493G>T
ENST00000507596.5:c.288G>T ENSP00000424291.1:p.Val96=
ENST00000508384.5:c.-145G>T ENSP00000464289.1:n.-145G>T
ENST00000510434.1:c.288G>T ENSP00000423051.1:p.Val96=
ENST00000514502.1:c.*305G>T ENSP00000425924.1:n.*305G>T
ENST00000515760.1:n.422G>T
NM_002617.3:c.288G>T NP_002608.1:p.Val96=
NM_153818.1:c.288G>T NP_722540.1:p.Val96=
XM_011541573.1:c.288G>T XP_011539875.1:p.Val96=
XM_011541574.1:c.-145G>T XP_011539876.1:n.-145G>T
XM_011541575.1:c.-145G>T XP_011539877.1:n.-145G>T
XM_011541576.1:c.288G>T XP_011539878.1:p.Val96=
XR_946666.1:n.408G>T
XM_011541576.2:c.288G>T XP_011539878.1:p.Val96=
XR_946666.2:n.357G>T
NM_001374425.1:c.288G>T NP_001361354.1:p.Val96=
NM_001374426.1:c.-145G>T NP_001361355.1:n.-145G>T
NM_001374427.1:c.-145G>T NP_001361356.1:n.-145G>T
NM_002617.4:c.288G>T MANE Select NP_002608.1:p.Val96=
NM_153818.2:c.288G>T NP_722540.1:p.Val96=
NR_164636.1:n.407G>T