Canonical Allele Identifier: CA450366024

Gene: PEX6

Linked Data

• ClinVar Variation Id: 1139752
• ClinVar RCV Id: RCV001476585
• dbSNP Id: rs2114247560
• MyVariant Identifiers: chr6:g.42937468A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969730A>G , CM000668.2:g.42969730A>G	GRCh38
NC_000006.11:g.42937468A>G , CM000668.1:g.42937468A>G	GRCh37
NC_000006.10:g.43045446A>G	NCBI36
NG_008370.1:g.14514T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1305T>C MANE Select	ENSP00000303511.8:p.Pro435=
ENST00000244546.4:c.1305T>C	ENSP00000244546.4:p.Pro435=
ENST00000304611.12:c.1305T>C	ENSP00000303511.8:p.Pro435=
NM_000287.3:c.1305T>C	NP_000278.3:p.Pro435=
NM_001316313.1:c.1041T>C	NP_001303242.1:p.Pro347=
NR_133009.1:n.1398T>C
XM_011514661.1:c.1221T>C	XP_011512963.1:p.Pro407=
XR_926246.1:n.1398T>C
XM_011514661.2:c.1221T>C	XP_011512963.1:p.Pro407=
XR_001743466.2:n.2379T>C
NM_000287.4:c.1305T>C MANE Select	NP_000278.3:p.Pro435=
NM_001316313.2:c.1041T>C	NP_001303242.1:p.Pro347=
NR_133009.2:n.1336T>C