Canonical Allele Identifier: CA2680487818
Gene: PEX7 HGNC NCBI

Linked Data

gnomAD v4: 6-136822577-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136822577C>G , CM000668.2:g.136822577C>G GRCh38
NC_000006.11:g.137143715C>G , CM000668.1:g.137143715C>G GRCh37
NC_000006.10:g.137185408C>G NCBI36
NG_008462.1:g.4998C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000541292.6:c.-89C>G ENSP00000441004.1:n.-89C>G
ENST00000541292.5:c.-89C>G ENSP00000441004.1:n.-89C>G
NM_000288.3:c.-89C>G NP_000279.1:n.-89C>G
XM_006715502.1:c.-89C>G XP_006715565.1:n.-89C>G
XM_011535900.1:c.-89C>G XP_011534202.1:n.-89C>G
XM_006715502.2:c.-89C>G XP_006715565.1:n.-89C>G
XM_017010934.2:c.-89C>G XP_016866423.1:n.-89C>G
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