Canonical Allele Identifier: CA450366124
Gene: PEX6 HGNC NCBI

Linked Data

ClinVar Variation Id: 992065
ClinVar RCV Id: RCV001280381 RCV001871606 RCV002486073
dbSNP Id: rs1196012985
gnomAD v2: 6-42937537-C-T
gnomAD v4: 6-42969799-C-T
MyVariant Identifiers: chr6:g.42937537C>T (hg19) chr6:g.42969799C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42969799C>T , CM000668.2:g.42969799C>T GRCh38
NC_000006.11:g.42937537C>T , CM000668.1:g.42937537C>T GRCh37
NC_000006.10:g.43045515C>T NCBI36
NG_008370.1:g.14445G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304611.13:c.1236G>A MANE Select ENSP00000303511.8:p.Val412=
ENST00000244546.4:c.1236G>A ENSP00000244546.4:p.Val412=
ENST00000304611.12:c.1236G>A ENSP00000303511.8:p.Val412=
NM_000287.3:c.1236G>A NP_000278.3:p.Val412=
NM_001316313.1:c.972G>A NP_001303242.1:p.Val324=
NR_133009.1:n.1329G>A
XM_011514661.1:c.1152G>A XP_011512963.1:p.Val384=
XR_926246.1:n.1329G>A
XM_011514661.2:c.1152G>A XP_011512963.1:p.Val384=
XR_001743466.2:n.2310G>A
NM_000287.4:c.1236G>A MANE Select NP_000278.3:p.Val412=
NM_001316313.2:c.972G>A NP_001303242.1:p.Val324=
NR_133009.2:n.1267G>A
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