Canonical Allele Identifier: CA3810919
Gene: PEX6 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.42964860C>T
GRCh37 chr6:g.42932598C>T
gnomAD v2:
6:42932598 C / T
gnomAD v3:
6:42964860 C / T
gnomAD v4:
chr6-42964860-C-T
Joint Max Group AF 0.00022311 (EAS)
Genomes Max Group AF 0.00002261 (AMR)
Exomes Max Group AF 0.00023278 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42964860C>T , CM000668.2:g.42964860C>T GRCh38
NC_000006.11:g.42932598C>T , CM000668.1:g.42932598C>T GRCh37
NC_000006.10:g.43040576C>T NCBI36
NG_008370.1:g.19384G>A
NG_008396.1:g.9099C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304611.13:c.2736G>A MANE Select ENSP00000303511.8:p.Ala912=
ENST00000244546.4:c.2489G>A ENSP00000244546.4:n.2489G>A
ENST00000304611.12:c.2736G>A ENSP00000303511.8:p.Ala912=
NM_000287.3:c.2736G>A NP_000278.3:p.Ala912=
NM_001316313.1:c.2472G>A NP_001303242.1:p.Ala824=
NR_133009.1:n.2582G>A
XM_011514661.1:c.2652G>A XP_011512963.1:p.Ala884=
XM_011514661.2:c.2652G>A XP_011512963.1:p.Ala884=
XR_001743466.2:n.3698G>A
NM_000287.4:c.2736G>A MANE Select NP_000278.3:p.Ala912=
NM_001316313.2:c.2472G>A NP_001303242.1:p.Ala824=
NR_133009.2:n.2520G>A
Search 100 bp 5'
Search 100 bp 3'