Canonical Allele Identifier: CA364155903

Gene: PEX6

Linked Data

• MyVariant Identifiers: chr6:g.42937521G>T (hg19) ; chr6:g.42969783G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969783G>T , CM000668.2:g.42969783G>T	GRCh38
NC_000006.11:g.42937521G>T , CM000668.1:g.42937521G>T	GRCh37
NC_000006.10:g.43045499G>T	NCBI36
NG_008370.1:g.14461C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1252C>A MANE Select	ENSP00000303511.8:p.Pro418Thr
ENST00000244546.4:c.1252C>A	ENSP00000244546.4:p.Pro418Thr
ENST00000304611.12:c.1252C>A	ENSP00000303511.8:p.Pro418Thr
NM_000287.3:c.1252C>A	NP_000278.3:p.Pro418Thr
NM_001316313.1:c.988C>A	NP_001303242.1:p.Pro330Thr
NR_133009.1:n.1345C>A
XM_011514661.1:c.1168C>A	XP_011512963.1:p.Pro390Thr
XR_926246.1:n.1345C>A
XM_011514661.2:c.1168C>A	XP_011512963.1:p.Pro390Thr
XR_001743466.2:n.2326C>A
NM_000287.4:c.1252C>A MANE Select	NP_000278.3:p.Pro418Thr
NM_001316313.2:c.988C>A	NP_001303242.1:p.Pro330Thr
NR_133009.2:n.1283C>A