Canonical Allele Identifier: CA364155649
Gene: PEX6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42969707G>C , CM000668.2:g.42969707G>C GRCh38
NC_000006.11:g.42937445G>C , CM000668.1:g.42937445G>C GRCh37
NC_000006.10:g.43045423G>C NCBI36
NG_008370.1:g.14537C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000304611.13:c.1328C>G MANE Select ENSP00000303511.8:p.Ser443Cys
ENST00000244546.4:c.1328C>G ENSP00000244546.4:p.Ser443Cys
ENST00000304611.12:c.1328C>G ENSP00000303511.8:p.Ser443Cys
NM_000287.3:c.1328C>G NP_000278.3:p.Ser443Cys
NM_001316313.1:c.1064C>G NP_001303242.1:p.Ser355Cys
NR_133009.1:n.1421C>G
XM_011514661.1:c.1244C>G XP_011512963.1:p.Ser415Cys
XR_926246.1:n.1421C>G
XM_011514661.2:c.1244C>G XP_011512963.1:p.Ser415Cys
XR_001743466.2:n.2402C>G
NM_000287.4:c.1328C>G MANE Select NP_000278.3:p.Ser443Cys
NM_001316313.2:c.1064C>G NP_001303242.1:p.Ser355Cys
NR_133009.2:n.1359C>G