Canonical Allele Identifier: CA450252943
Gene: PEX6 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42964449T>G , CM000668.2:g.42964449T>G GRCh38
NC_000006.11:g.42932187T>G , CM000668.1:g.42932187T>G GRCh37
NC_000006.10:g.43040165T>G NCBI36
NG_008370.1:g.19795A>C
NG_008396.1:g.8688T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000304611.13:c.2829A>C MANE Select ENSP00000303511.8:p.Ala943=
ENST00000244546.4:c.2582A>C ENSP00000244546.4:n.2582A>C
ENST00000304611.12:c.2829A>C ENSP00000303511.8:p.Ala943=
NM_000287.3:c.2829A>C NP_000278.3:p.Ala943=
NM_001316313.1:c.2565A>C NP_001303242.1:p.Ala855=
NR_133009.1:n.2675A>C
XM_011514661.1:c.2745A>C XP_011512963.1:p.Ala915=
XM_011514661.2:c.2745A>C XP_011512963.1:p.Ala915=
XR_001743466.2:n.3791A>C
NM_000287.4:c.2829A>C MANE Select NP_000278.3:p.Ala943=
NM_001316313.2:c.2565A>C NP_001303242.1:p.Ala855=
NR_133009.2:n.2613A>C