Canonical Allele Identifier: CA364155676

Gene: PEX6

Linked Data

• MyVariant Identifiers: chr6:g.42937455C>G (hg19) ; chr6:g.42969717C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969717C>G , CM000668.2:g.42969717C>G	GRCh38
NC_000006.11:g.42937455C>G , CM000668.1:g.42937455C>G	GRCh37
NC_000006.10:g.43045433C>G	NCBI36
NG_008370.1:g.14527G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1318G>C MANE Select	ENSP00000303511.8:p.Ala440Pro
ENST00000244546.4:c.1318G>C	ENSP00000244546.4:p.Ala440Pro
ENST00000304611.12:c.1318G>C	ENSP00000303511.8:p.Ala440Pro
NM_000287.3:c.1318G>C	NP_000278.3:p.Ala440Pro
NM_001316313.1:c.1054G>C	NP_001303242.1:p.Ala352Pro
NR_133009.1:n.1411G>C
XM_011514661.1:c.1234G>C	XP_011512963.1:p.Ala412Pro
XR_926246.1:n.1411G>C
XM_011514661.2:c.1234G>C	XP_011512963.1:p.Ala412Pro
XR_001743466.2:n.2392G>C
NM_000287.4:c.1318G>C MANE Select	NP_000278.3:p.Ala440Pro
NM_001316313.2:c.1054G>C	NP_001303242.1:p.Ala352Pro
NR_133009.2:n.1349G>C