Canonical Allele Identifier: CA148640651
Gene: PEX7 HGNC NCBI

Linked Data

dbSNP Id: rs550636582
gnomAD v2: 6-137143719-C-T
gnomAD v3: 6-136822581-C-T
gnomAD v4: 6-136822581-C-T
MyVariant Identifiers: chr6:g.137143719C>T (hg19) chr6:g.136822581C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136822581C>T , CM000668.2:g.136822581C>T GRCh38
NC_000006.11:g.137143719C>T , CM000668.1:g.137143719C>T GRCh37
NC_000006.10:g.137185412C>T NCBI36
NG_008462.1:g.5002C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000541292.6:c.-85C>T ENSP00000441004.1:n.-85C>T
ENST00000367756.8:c.-85C>T ENSP00000356730.4:n.-85C>T
ENST00000541292.5:c.-85C>T ENSP00000441004.1:n.-85C>T
NM_000288.3:c.-85C>T NP_000279.1:n.-85C>T
XM_006715502.1:c.-85C>T XP_006715565.1:n.-85C>T
XM_011535900.1:c.-85C>T XP_011534202.1:n.-85C>T
XM_006715502.2:c.-85C>T XP_006715565.1:n.-85C>T
XM_017010934.2:c.-85C>T XP_016866423.1:n.-85C>T
Search 100 bp 5'
Search 100 bp 3'