Canonical Allele Identifier: CA138227838

Gene: PEX6

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1223C>T MANE Select	ENSP00000303511.8:p.Ser408Phe
ENST00000244546.4:c.1223C>T	ENSP00000244546.4:p.Ser408Phe
ENST00000304611.12:c.1223C>T	ENSP00000303511.8:p.Ser408Phe
NM_000287.3:c.1223C>T	NP_000278.3:p.Ser408Phe
NM_001316313.1:c.959C>T	NP_001303242.1:p.Ser320Phe
NR_133009.1:n.1316C>T
XM_011514661.1:c.1139C>T	XP_011512963.1:p.Ser380Phe
XR_926246.1:n.1316C>T
XM_011514661.2:c.1139C>T	XP_011512963.1:p.Ser380Phe
XR_001743466.2:n.2297C>T
NM_000287.4:c.1223C>T MANE Select	NP_000278.3:p.Ser408Phe
NM_001316313.2:c.959C>T	NP_001303242.1:p.Ser320Phe
NR_133009.2:n.1254C>T