Canonical Allele Identifier: CA450365740

Gene: PEX6

Linked Data

• ClinVar Variation Id: 1160410
• ClinVar RCV Id: RCV001504533
• dbSNP Id: rs1390461246
• gnomAD v2: 6-42937626-G-A
• gnomAD v4: 6-42969888-G-A
• MyVariant Identifiers: chr6:g.42937626G>A (hg19) ; chr6:g.42969888G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969888G>A , CM000668.2:g.42969888G>A	GRCh38
NC_000006.11:g.42937626G>A , CM000668.1:g.42937626G>A	GRCh37
NC_000006.10:g.43045604G>A	NCBI36
NG_008370.1:g.14356C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1230C>T MANE Select	ENSP00000303511.8:p.Tyr410=
ENST00000244546.4:c.1230C>T	ENSP00000244546.4:p.Tyr410=
ENST00000304611.12:c.1230C>T	ENSP00000303511.8:p.Tyr410=
NM_000287.3:c.1230C>T	NP_000278.3:p.Tyr410=
NM_001316313.1:c.966C>T	NP_001303242.1:p.Tyr322=
NR_133009.1:n.1323C>T
XM_011514661.1:c.1146C>T	XP_011512963.1:p.Tyr382=
XR_926246.1:n.1323C>T
XM_011514661.2:c.1146C>T	XP_011512963.1:p.Tyr382=
XR_001743466.2:n.2304C>T
NM_000287.4:c.1230C>T MANE Select	NP_000278.3:p.Tyr410=
NM_001316313.2:c.966C>T	NP_001303242.1:p.Tyr322=
NR_133009.2:n.1261C>T