Canonical Allele Identifier: CA148640631
Gene: PEX7 HGNC NCBI

Linked Data

dbSNP Id: rs879457913
gnomAD v2: 6-137143660-T-C
gnomAD v3: 6-136822522-T-C
gnomAD v4: 6-136822522-T-C
MyVariant Identifiers: chr6:g.137143660T>C (hg19) chr6:g.136822522T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136822522T>C , CM000668.2:g.136822522T>C GRCh38
NC_000006.11:g.137143660T>C , CM000668.1:g.137143660T>C GRCh37
NC_000006.10:g.137185353T>C NCBI36
NG_008462.1:g.4943T>C

Transcript Alleles

HGVS Amino-acid change
XM_006715502.1:c.-144T>C XP_006715565.1:n.-144T>C
XM_011535900.1:c.-144T>C XP_011534202.1:n.-144T>C
XM_006715502.2:c.-144T>C XP_006715565.1:n.-144T>C
XM_017010934.2:c.-144T>C XP_016866423.1:n.-144T>C
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