Canonical Allele Identifier: CA364155663

Gene: PEX6

Linked Data

• MyVariant Identifiers: chr6:g.42937451A>C (hg19) ; chr6:g.42969713A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969713A>C , CM000668.2:g.42969713A>C	GRCh38
NC_000006.11:g.42937451A>C , CM000668.1:g.42937451A>C	GRCh37
NC_000006.10:g.43045429A>C	NCBI36
NG_008370.1:g.14531T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1322T>G MANE Select	ENSP00000303511.8:p.Leu441Trp
ENST00000244546.4:c.1322T>G	ENSP00000244546.4:p.Leu441Trp
ENST00000304611.12:c.1322T>G	ENSP00000303511.8:p.Leu441Trp
NM_000287.3:c.1322T>G	NP_000278.3:p.Leu441Trp
NM_001316313.1:c.1058T>G	NP_001303242.1:p.Leu353Trp
NR_133009.1:n.1415T>G
XM_011514661.1:c.1238T>G	XP_011512963.1:p.Leu413Trp
XR_926246.1:n.1415T>G
XM_011514661.2:c.1238T>G	XP_011512963.1:p.Leu413Trp
XR_001743466.2:n.2396T>G
NM_000287.4:c.1322T>G MANE Select	NP_000278.3:p.Leu441Trp
NM_001316313.2:c.1058T>G	NP_001303242.1:p.Leu353Trp
NR_133009.2:n.1353T>G