Canonical Allele Identifier: CA8504837
Gene: PEX12 HGNC NCBI

Linked Data

dbSNP Id: rs569741823
ExAC: 17:33903070 C / G
gnomAD v2: 17-33903070-C-G
gnomAD v3: 17-35576051-C-G
gnomAD v4: 17-35576051-C-G
MyVariant Identifiers: chr17:g.33903070C>G (hg19) chr17:g.35576051C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35576051C>G , CM000679.2:g.35576051C>G GRCh38
NC_000017.10:g.33903070C>G , CM000679.1:g.33903070C>G GRCh37
NC_000017.9:g.30927183C>G NCBI36
NG_008447.1:g.7587G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000225873.9:c.811G>C MANE Select ENSP00000225873.3:p.Glu271Gln
ENST00000586663.2:c.811G>C ENSP00000466894.2:p.Glu271Gln
ENST00000225873.8:c.811G>C ENSP00000225873.3:p.Glu271Gln
ENST00000586663.1:c.811G>C ENSP00000466894.1:p.Glu271Gln
ENST00000613219.4:c.811G>C ENSP00000482609.1:p.Glu271Gln
NM_000286.2:c.811G>C NP_000277.1:p.Glu271Gln
NM_000286.3:c.811G>C MANE Select NP_000277.1:p.Glu271Gln
Search 100 bp 5'
Search 100 bp 3'