Canonical Allele Identifier: CA3810919

Gene: PEX6

Linked Data

• ClinVar Variation Id: 356794
• ClinVar RCV Id: RCV000349557 ; RCV001276730 ; RCV001083938 ; RCV000728934
• dbSNP Id: rs202049230
• ExAC: 6:42932598 C / T
• gnomAD v2: 6-42932598-C-T
• gnomAD v3: 6-42964860-C-T
• gnomAD v4: 6-42964860-C-T
• MyVariant Identifiers: chr6:g.42932598C>T (hg19) ; chr6:g.42964860C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42964860C>T , CM000668.2:g.42964860C>T	GRCh38
NC_000006.11:g.42932598C>T , CM000668.1:g.42932598C>T	GRCh37
NC_000006.10:g.43040576C>T	NCBI36
NG_008370.1:g.19384G>A
NG_008396.1:g.9099C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.2736G>A MANE Select	ENSP00000303511.8:p.Ala912=
ENST00000244546.4:c.2489G>A	ENSP00000244546.4:n.2489G>A
ENST00000304611.12:c.2736G>A	ENSP00000303511.8:p.Ala912=
NM_000287.3:c.2736G>A	NP_000278.3:p.Ala912=
NM_001316313.1:c.2472G>A	NP_001303242.1:p.Ala824=
NR_133009.1:n.2582G>A
XM_011514661.1:c.2652G>A	XP_011512963.1:p.Ala884=
XM_011514661.2:c.2652G>A	XP_011512963.1:p.Ala884=
XR_001743466.2:n.3698G>A
NM_000287.4:c.2736G>A MANE Select	NP_000278.3:p.Ala912=
NM_001316313.2:c.2472G>A	NP_001303242.1:p.Ala824=
NR_133009.2:n.2520G>A