Canonical Allele Identifier: CA364155569

Gene: PEX6

Linked Data

• ClinVar Variation Id: 1037754
• ClinVar RCV Id: RCV001340950
• dbSNP Id: rs1769988827
• MyVariant Identifiers: chr6:g.42937416G>A (hg19) ; chr6:g.42969678G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969678G>A , CM000668.2:g.42969678G>A	GRCh38
NC_000006.11:g.42937416G>A , CM000668.1:g.42937416G>A	GRCh37
NC_000006.10:g.43045394G>A	NCBI36
NG_008370.1:g.14566C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1357C>T MANE Select	ENSP00000303511.8:p.Leu453Phe
ENST00000244546.4:c.1357C>T	ENSP00000244546.4:p.Leu453Phe
ENST00000304611.12:c.1357C>T	ENSP00000303511.8:p.Leu453Phe
NM_000287.3:c.1357C>T	NP_000278.3:p.Leu453Phe
NM_001316313.1:c.1093C>T	NP_001303242.1:p.Leu365Phe
NR_133009.1:n.1450C>T
XM_011514661.1:c.1273C>T	XP_011512963.1:p.Leu425Phe
XR_926246.1:n.1450C>T
XM_011514661.2:c.1273C>T	XP_011512963.1:p.Leu425Phe
XR_001743466.2:n.2431C>T
NM_000287.4:c.1357C>T MANE Select	NP_000278.3:p.Leu453Phe
NM_001316313.2:c.1093C>T	NP_001303242.1:p.Leu365Phe
NR_133009.2:n.1388C>T