Canonical Allele Identifier: CA2680487820
Gene: PEX7 HGNC NCBI

Linked Data

gnomAD v4: 6-136822580-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136822580C>A , CM000668.2:g.136822580C>A GRCh38
NC_000006.11:g.137143718C>A , CM000668.1:g.137143718C>A GRCh37
NC_000006.10:g.137185411C>A NCBI36
NG_008462.1:g.5001C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000541292.6:c.-86C>A ENSP00000441004.1:n.-86C>A
ENST00000367756.8:c.-86C>A ENSP00000356730.4:n.-86C>A
ENST00000541292.5:c.-86C>A ENSP00000441004.1:n.-86C>A
NM_000288.3:c.-86C>A NP_000279.1:n.-86C>A
XM_006715502.1:c.-86C>A XP_006715565.1:n.-86C>A
XM_011535900.1:c.-86C>A XP_011534202.1:n.-86C>A
XM_006715502.2:c.-86C>A XP_006715565.1:n.-86C>A
XM_017010934.2:c.-86C>A XP_016866423.1:n.-86C>A
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