Canonical Allele Identifier: CA583974
Gene: PEX14 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.10629678G>A
GRCh37 chr1:g.10689735G>A
gnomAD v2:
1:10689735 G / A
gnomAD v3:
1:10629678 G / A
gnomAD v4:
chr1-10629678-G-A
Joint Max Group AF 0.00530049 (AFR)
Genomes Max Group AF 0.00499948 (AFR)
Exomes Max Group AF 0.00527059 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10629678G>A , CM000663.2:g.10629678G>A GRCh38
NC_000001.10:g.10689735G>A , CM000663.1:g.10689735G>A GRCh37
NC_000001.9:g.10612322G>A NCBI36
NG_008340.1:g.159733G>A
NG_008340.2:g.159733G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356607.9:c.825G>A MANE Select ENSP00000349016.4:p.Ser275=
ENST00000356607.8:c.825G>A ENSP00000349016.4:p.Ser275=
NM_004565.2:c.825G>A NP_004556.1:p.Ser275=
XM_005263470.3:c.633G>A XP_005263527.1:p.Ser211=
XM_011541577.1:c.867G>A XP_011539879.1:p.Ser289=
XM_011541578.1:c.768G>A XP_011539880.1:p.Ser256=
XM_011541579.1:c.738G>A XP_011539881.1:p.Ser246=
XM_011541580.1:c.696G>A XP_011539882.1:p.Ser232=
XM_005263470.5:c.633G>A XP_005263527.1:p.Ser211=
XM_011541577.2:c.867G>A XP_011539879.1:p.Ser289=
XM_011541578.2:c.768G>A XP_011539880.1:p.Ser256=
XM_011541579.3:c.738G>A XP_011539881.1:p.Ser246=
XM_024447651.1:c.633G>A XP_024303419.1:p.Ser211=
NM_004565.3:c.825G>A MANE Select NP_004556.1:p.Ser275=
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