Canonical Allele Identifier: CA364162996

Gene: PEX6

Linked Data

• MyVariant Identifiers: chr6:g.42946235G>T (hg19) ; chr6:g.42978497G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42978497G>T , CM000668.2:g.42978497G>T	GRCh38
NC_000006.11:g.42946235G>T , CM000668.1:g.42946235G>T	GRCh37
NC_000006.10:g.43054213G>T	NCBI36
NG_008370.1:g.5747C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.654C>A MANE Select	ENSP00000303511.8:p.Phe218Leu
ENST00000244546.4:c.654C>A	ENSP00000244546.4:p.Phe218Leu
ENST00000304611.12:c.654C>A	ENSP00000303511.8:p.Phe218Leu
NM_000287.3:c.654C>A	NP_000278.3:p.Phe218Leu
NM_001316313.1:c.618+36C>A	NP_001303242.1:n.618+36C>A
NR_133009.1:n.747C>A
XM_011514661.1:c.654C>A	XP_011512963.1:p.Phe218Leu
XR_926246.1:n.747C>A
XM_011514661.2:c.654C>A	XP_011512963.1:p.Phe218Leu
XR_001743466.2:n.1728C>A
NM_000287.4:c.654C>A MANE Select	NP_000278.3:p.Phe218Leu
NM_001316313.2:c.618+36C>A	NP_001303242.1:n.618+36C>A
NR_133009.2:n.685C>A