Canonical Allele Identifier: CA450366031

Gene: PEX6

Linked Data

• ClinVar Variation Id: 2746782
• ClinVar RCV Id: RCV003531113
• MyVariant Identifiers: chr6:g.42937471A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969733A>G , CM000668.2:g.42969733A>G	GRCh38
NC_000006.11:g.42937471A>G , CM000668.1:g.42937471A>G	GRCh37
NC_000006.10:g.43045449A>G	NCBI36
NG_008370.1:g.14511T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1302T>C MANE Select	ENSP00000303511.8:p.Ser434=
ENST00000244546.4:c.1302T>C	ENSP00000244546.4:p.Ser434=
ENST00000304611.12:c.1302T>C	ENSP00000303511.8:p.Ser434=
NM_000287.3:c.1302T>C	NP_000278.3:p.Ser434=
NM_001316313.1:c.1038T>C	NP_001303242.1:p.Ser346=
NR_133009.1:n.1395T>C
XM_011514661.1:c.1218T>C	XP_011512963.1:p.Ser406=
XR_926246.1:n.1395T>C
XM_011514661.2:c.1218T>C	XP_011512963.1:p.Ser406=
XR_001743466.2:n.2376T>C
NM_000287.4:c.1302T>C MANE Select	NP_000278.3:p.Ser434=
NM_001316313.2:c.1038T>C	NP_001303242.1:p.Ser346=
NR_133009.2:n.1333T>C