Canonical Allele Identifier: CA584042
Gene: PEX14 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.10629994G>T
GRCh37 chr1:g.10690051G>T
gnomAD v2:
1:10690051 G / T
gnomAD v3:
1:10629994 G / T
gnomAD v4:
chr1-10629994-G-T
Joint Max Group AF 0.00545872 (SAS)
Genomes Max Group AF 0.00578571 (SAS)
Exomes Max Group AF 0.00534844 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10629994G>T , CM000663.2:g.10629994G>T GRCh38
NC_000001.10:g.10690051G>T , CM000663.1:g.10690051G>T GRCh37
NC_000001.9:g.10612638G>T NCBI36
NG_008340.1:g.160049G>T
NG_008340.2:g.160049G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356607.9:c.*7G>T MANE Select ENSP00000349016.4:n.*7G>T
ENST00000356607.8:c.*7G>T ENSP00000349016.4:n.*7G>T
NM_004565.2:c.*7G>T NP_004556.1:n.*7G>T
XM_005263470.3:c.*7G>T XP_005263527.1:n.*7G>T
XM_011541577.1:c.*7G>T XP_011539879.1:n.*7G>T
XM_011541578.1:c.*7G>T XP_011539880.1:n.*7G>T
XM_011541579.1:c.*7G>T XP_011539881.1:n.*7G>T
XM_011541580.1:c.*7G>T XP_011539882.1:n.*7G>T
XM_005263470.5:c.*7G>T XP_005263527.1:n.*7G>T
XM_011541577.2:c.*7G>T XP_011539879.1:n.*7G>T
XM_011541578.2:c.*7G>T XP_011539880.1:n.*7G>T
XM_011541579.3:c.*7G>T XP_011539881.1:n.*7G>T
XM_024447651.1:c.*7G>T XP_024303419.1:n.*7G>T
NM_004565.3:c.*7G>T MANE Select NP_004556.1:n.*7G>T
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