Canonical Allele Identifier: CA364156032

Gene: PEX6

Linked Data

• dbSNP Id: rs987165632
• gnomAD v3: 6-42969895-G-C
• gnomAD v4: 6-42969895-G-C
• MyVariant Identifiers: chr6:g.42937633G>C (hg19) ; chr6:g.42969895G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969895G>C , CM000668.2:g.42969895G>C	GRCh38
NC_000006.11:g.42937633G>C , CM000668.1:g.42937633G>C	GRCh37
NC_000006.10:g.43045611G>C	NCBI36
NG_008370.1:g.14349C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1223C>G MANE Select	ENSP00000303511.8:p.Ser408Cys
ENST00000244546.4:c.1223C>G	ENSP00000244546.4:p.Ser408Cys
ENST00000304611.12:c.1223C>G	ENSP00000303511.8:p.Ser408Cys
NM_000287.3:c.1223C>G	NP_000278.3:p.Ser408Cys
NM_001316313.1:c.959C>G	NP_001303242.1:p.Ser320Cys
NR_133009.1:n.1316C>G
XM_011514661.1:c.1139C>G	XP_011512963.1:p.Ser380Cys
XR_926246.1:n.1316C>G
XM_011514661.2:c.1139C>G	XP_011512963.1:p.Ser380Cys
XR_001743466.2:n.2297C>G
NM_000287.4:c.1223C>G MANE Select	NP_000278.3:p.Ser408Cys
NM_001316313.2:c.959C>G	NP_001303242.1:p.Ser320Cys
NR_133009.2:n.1254C>G