Canonical Allele Identifier: CA3811379

Gene: PEX6

Linked Data

• dbSNP Id: rs768448364
• ExAC: 6:42937502 G / A
• gnomAD v2: 6-42937502-G-A
• gnomAD v4: 6-42969764-G-A
• MyVariant Identifiers: chr6:g.42937502G>A (hg19) ; chr6:g.42969764G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969764G>A , CM000668.2:g.42969764G>A	GRCh38
NC_000006.11:g.42937502G>A , CM000668.1:g.42937502G>A	GRCh37
NC_000006.10:g.43045480G>A	NCBI36
NG_008370.1:g.14480C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1271C>T MANE Select	ENSP00000303511.8:p.Ser424Leu
ENST00000244546.4:c.1271C>T	ENSP00000244546.4:p.Ser424Leu
ENST00000304611.12:c.1271C>T	ENSP00000303511.8:p.Ser424Leu
NM_000287.3:c.1271C>T	NP_000278.3:p.Ser424Leu
NM_001316313.1:c.1007C>T	NP_001303242.1:p.Ser336Leu
NR_133009.1:n.1364C>T
XM_011514661.1:c.1187C>T	XP_011512963.1:p.Ser396Leu
XR_926246.1:n.1364C>T
XM_011514661.2:c.1187C>T	XP_011512963.1:p.Ser396Leu
XR_001743466.2:n.2345C>T
NM_000287.4:c.1271C>T MANE Select	NP_000278.3:p.Ser424Leu
NM_001316313.2:c.1007C>T	NP_001303242.1:p.Ser336Leu
NR_133009.2:n.1302C>T