Canonical Allele Identifier: CA450365984
Gene: PEX6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1601896
ClinVar RCV Id: RCV002127580
dbSNP Id: rs2114247492
MyVariant Identifiers: chr6:g.42937453G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42969715G>A , CM000668.2:g.42969715G>A GRCh38
NC_000006.11:g.42937453G>A , CM000668.1:g.42937453G>A GRCh37
NC_000006.10:g.43045431G>A NCBI36
NG_008370.1:g.14529C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304611.13:c.1320C>T MANE Select ENSP00000303511.8:p.Ala440=
ENST00000244546.4:c.1320C>T ENSP00000244546.4:p.Ala440=
ENST00000304611.12:c.1320C>T ENSP00000303511.8:p.Ala440=
NM_000287.3:c.1320C>T NP_000278.3:p.Ala440=
NM_001316313.1:c.1056C>T NP_001303242.1:p.Ala352=
NR_133009.1:n.1413C>T
XM_011514661.1:c.1236C>T XP_011512963.1:p.Ala412=
XR_926246.1:n.1413C>T
XM_011514661.2:c.1236C>T XP_011512963.1:p.Ala412=
XR_001743466.2:n.2394C>T
NM_000287.4:c.1320C>T MANE Select NP_000278.3:p.Ala440=
NM_001316313.2:c.1056C>T NP_001303242.1:p.Ala352=
NR_133009.2:n.1351C>T