Canonical Allele Identifier: CA138227678

Gene: PEX6

Linked Data

• dbSNP Id: rs1002946677
• gnomAD v3: 6-42969763-T-G
• gnomAD v4: 6-42969763-T-G
• MyVariant Identifiers: chr6:g.42937501T>G (hg19) ; chr6:g.42969763T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969763T>G , CM000668.2:g.42969763T>G	GRCh38
NC_000006.11:g.42937501T>G , CM000668.1:g.42937501T>G	GRCh37
NC_000006.10:g.43045479T>G	NCBI36
NG_008370.1:g.14481A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1272A>C MANE Select	ENSP00000303511.8:p.Ser424=
ENST00000244546.4:c.1272A>C	ENSP00000244546.4:p.Ser424=
ENST00000304611.12:c.1272A>C	ENSP00000303511.8:p.Ser424=
NM_000287.3:c.1272A>C	NP_000278.3:p.Ser424=
NM_001316313.1:c.1008A>C	NP_001303242.1:p.Ser336=
NR_133009.1:n.1365A>C
XM_011514661.1:c.1188A>C	XP_011512963.1:p.Ser396=
XR_926246.1:n.1365A>C
XM_011514661.2:c.1188A>C	XP_011512963.1:p.Ser396=
XR_001743466.2:n.2346A>C
NM_000287.4:c.1272A>C MANE Select	NP_000278.3:p.Ser424=
NM_001316313.2:c.1008A>C	NP_001303242.1:p.Ser336=
NR_133009.2:n.1303A>C