Canonical Allele Identifier: CA10625880
Gene: PEX7 HGNC NCBI

Linked Data

ClinVar Variation Id: 355522
ClinVar RCV Id: RCV000300626 RCV000336760 RCV000676101 RCV001275001
dbSNP Id: rs73777751
gnomAD v2: 6-137143748-C-T
gnomAD v3: 6-136822610-C-T
gnomAD v4: 6-136822610-C-T
MyVariant Identifiers: chr6:g.137143748C>T (hg19) chr6:g.136822610C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136822610C>T , CM000668.2:g.136822610C>T GRCh38
NC_000006.11:g.137143748C>T , CM000668.1:g.137143748C>T GRCh37
NC_000006.10:g.137185441C>T NCBI36
NG_008462.1:g.5031C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.-56C>T MANE Select ENSP00000315680.3:n.-56C>T
ENST00000541292.6:c.-56C>T ENSP00000441004.1:n.-56C>T
ENST00000318471.4:c.-56C>T ENSP00000315680.3:n.-56C>T
ENST00000367756.8:c.-56C>T ENSP00000356730.4:n.-56C>T
ENST00000541292.5:c.-56C>T ENSP00000441004.1:n.-56C>T
NM_000288.3:c.-56C>T NP_000279.1:n.-56C>T
XM_006715502.1:c.-56C>T XP_006715565.1:n.-56C>T
XM_011535900.1:c.-56C>T XP_011534202.1:n.-56C>T
XM_006715502.2:c.-56C>T XP_006715565.1:n.-56C>T
XM_017010934.2:c.-56C>T XP_016866423.1:n.-56C>T
NM_000288.4:c.-56C>T MANE Select NP_000279.1:n.-56C>T
Search 100 bp 5'
Search 100 bp 3'