Canonical Allele Identifier: CA3811372

Gene: PEX6

Linked Data

• dbSNP Id: rs747218217
• ExAC: 6:42937461 G / T
• gnomAD v2: 6-42937461-G-T
• gnomAD v4: 6-42969723-G-T
• MyVariant Identifiers: chr6:g.42937461G>T (hg19) ; chr6:g.42969723G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969723G>T , CM000668.2:g.42969723G>T	GRCh38
NC_000006.11:g.42937461G>T , CM000668.1:g.42937461G>T	GRCh37
NC_000006.10:g.43045439G>T	NCBI36
NG_008370.1:g.14521C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000304611.13:c.1312C>A MANE Select	ENSP00000303511.8:p.Leu438Met
ENST00000244546.4:c.1312C>A	ENSP00000244546.4:p.Leu438Met
ENST00000304611.12:c.1312C>A	ENSP00000303511.8:p.Leu438Met
NM_000287.3:c.1312C>A	NP_000278.3:p.Leu438Met
NM_001316313.1:c.1048C>A	NP_001303242.1:p.Leu350Met
NR_133009.1:n.1405C>A
XM_011514661.1:c.1228C>A	XP_011512963.1:p.Leu410Met
XR_926246.1:n.1405C>A
XM_011514661.2:c.1228C>A	XP_011512963.1:p.Leu410Met
XR_001743466.2:n.2386C>A
NM_000287.4:c.1312C>A MANE Select	NP_000278.3:p.Leu438Met
NM_001316313.2:c.1048C>A	NP_001303242.1:p.Leu350Met
NR_133009.2:n.1343C>A