Canonical Allele Identifier: CA234527
Gene: PEX14 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.10629677C>T
GRCh37 chr1:g.10689734C>T
Revel Score:
ENST00000356607 (MANE Select) 0.214
ENST00000538836 0.214
gnomAD v2:
1:10689734 C / T
gnomAD v3:
1:10629677 C / T
gnomAD v4:
chr1-10629677-C-T
Joint Max Group AF 0.00022099 (AMR)
Genomes Max Group AF 0.0000226 (AMR)
Exomes Max Group AF 0.00025965 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10629677C>T , CM000663.2:g.10629677C>T GRCh38
NC_000001.10:g.10689734C>T , CM000663.1:g.10689734C>T GRCh37
NC_000001.9:g.10612321C>T NCBI36
NG_008340.1:g.159732C>T
NG_008340.2:g.159732C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356607.9:c.824C>T MANE Select ENSP00000349016.4:p.Ser275Leu
ENST00000356607.8:c.824C>T ENSP00000349016.4:p.Ser275Leu
NM_004565.2:c.824C>T NP_004556.1:p.Ser275Leu
XM_005263470.3:c.632C>T XP_005263527.1:p.Ser211Leu
XM_011541577.1:c.866C>T XP_011539879.1:p.Ser289Leu
XM_011541578.1:c.767C>T XP_011539880.1:p.Ser256Leu
XM_011541579.1:c.737C>T XP_011539881.1:p.Ser246Leu
XM_011541580.1:c.695C>T XP_011539882.1:p.Ser232Leu
XM_005263470.5:c.632C>T XP_005263527.1:p.Ser211Leu
XM_011541577.2:c.866C>T XP_011539879.1:p.Ser289Leu
XM_011541578.2:c.767C>T XP_011539880.1:p.Ser256Leu
XM_011541579.3:c.737C>T XP_011539881.1:p.Ser246Leu
XM_024447651.1:c.632C>T XP_024303419.1:p.Ser211Leu
NM_004565.3:c.824C>T MANE Select NP_004556.1:p.Ser275Leu
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