Canonical Allele Identifier: CA583916
Gene: PEX14 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.10627288A>G
GRCh37 chr1:g.10687345A>G
Revel Score:
ENST00000356607 (MANE Select) 0.060
ENST00000538836 0.060
gnomAD v2:
1:10687345 A / G
gnomAD v3:
1:10627288 A / G
gnomAD v4:
chr1-10627288-A-G
Joint Max Group AF 0.00207448 (AFR)
Genomes Max Group AF 0.00213465 (AFR)
Exomes Max Group AF 0.00175137 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10627288A>G , CM000663.2:g.10627288A>G GRCh38
NC_000001.10:g.10687345A>G , CM000663.1:g.10687345A>G GRCh37
NC_000001.9:g.10609932A>G NCBI36
NG_008340.1:g.157343A>G
NG_008340.2:g.157343A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356607.9:c.602A>G MANE Select ENSP00000349016.4:p.Asn201Ser
ENST00000356607.8:c.602A>G ENSP00000349016.4:p.Asn201Ser
NM_004565.2:c.602A>G NP_004556.1:p.Asn201Ser
XM_005263470.3:c.410A>G XP_005263527.1:p.Asn137Ser
XM_011541577.1:c.644A>G XP_011539879.1:p.Asn215Ser
XM_011541578.1:c.545A>G XP_011539880.1:p.Asn182Ser
XM_011541579.1:c.515A>G XP_011539881.1:p.Asn172Ser
XM_011541580.1:c.473A>G XP_011539882.1:p.Asn158Ser
XM_005263470.5:c.410A>G XP_005263527.1:p.Asn137Ser
XM_011541577.2:c.644A>G XP_011539879.1:p.Asn215Ser
XM_011541578.2:c.545A>G XP_011539880.1:p.Asn182Ser
XM_011541579.3:c.515A>G XP_011539881.1:p.Asn172Ser
XM_024447651.1:c.410A>G XP_024303419.1:p.Asn137Ser
NM_004565.3:c.602A>G MANE Select NP_004556.1:p.Asn201Ser
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