Canonical Allele Identifier: CA3811364

Gene: PEX6

Linked Data

• ClinVar Variation Id: 2637400
• ClinVar RCV Id: RCV004554184
• dbSNP Id: rs767009020
• ExAC: 6:42937425 T / G
• gnomAD v2: 6-42937425-T-G
• gnomAD v4: 6-42969687-T-G
• MyVariant Identifiers: chr6:g.42937425T>G (hg19) ; chr6:g.42969687T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969687T>G , CM000668.2:g.42969687T>G	GRCh38
NC_000006.11:g.42937425T>G , CM000668.1:g.42937425T>G	GRCh37
NC_000006.10:g.43045403T>G	NCBI36
NG_008370.1:g.14557A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1348A>C MANE Select	ENSP00000303511.8:p.Lys450Gln
ENST00000244546.4:c.1348A>C	ENSP00000244546.4:p.Lys450Gln
ENST00000304611.12:c.1348A>C	ENSP00000303511.8:p.Lys450Gln
NM_000287.3:c.1348A>C	NP_000278.3:p.Lys450Gln
NM_001316313.1:c.1084A>C	NP_001303242.1:p.Lys362Gln
NR_133009.1:n.1441A>C
XM_011514661.1:c.1264A>C	XP_011512963.1:p.Lys422Gln
XR_926246.1:n.1441A>C
XM_011514661.2:c.1264A>C	XP_011512963.1:p.Lys422Gln
XR_001743466.2:n.2422A>C
NM_000287.4:c.1348A>C MANE Select	NP_000278.3:p.Lys450Gln
NM_001316313.2:c.1084A>C	NP_001303242.1:p.Lys362Gln
NR_133009.2:n.1379A>C