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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA148640633
Gene: PEX7
HGNC
NCBI
Linked Data
dbSNP Id:
rs909053200
MyVariant Identifiers:
chr6:g.137143681A>C (hg19)
chr6:g.136822543A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.136822543A>C , CM000668.2:g.136822543A>C
GRCh38
NC_000006.11:g.137143681A>C , CM000668.1:g.137143681A>C
GRCh37
NC_000006.10:g.137185374A>C
NCBI36
NG_008462.1:g.4964A>C
Transcript Alleles
HGVS
Amino-acid change
XM_006715502.1:c.-123A>C
XP_006715565.1:n.-123A>C
XM_011535900.1:c.-123A>C
XP_011534202.1:n.-123A>C
XM_006715502.2:c.-123A>C
XP_006715565.1:n.-123A>C
XM_017010934.2:c.-123A>C
XP_016866423.1:n.-123A>C
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