Canonical Allele Identifier: CA364156002

Gene: PEX6

Linked Data

• dbSNP Id: rs566310924
• gnomAD v4: 6-42969886-A-C
• MyVariant Identifiers: chr6:g.42937624A>C (hg19) ; chr6:g.42969886A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969886A>C , CM000668.2:g.42969886A>C	GRCh38
NC_000006.11:g.42937624A>C , CM000668.1:g.42937624A>C	GRCh37
NC_000006.10:g.43045602A>C	NCBI36
NG_008370.1:g.14358T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1232T>G MANE Select	ENSP00000303511.8:p.Met411Arg
ENST00000244546.4:c.1232T>G	ENSP00000244546.4:p.Met411Arg
ENST00000304611.12:c.1232T>G	ENSP00000303511.8:p.Met411Arg
NM_000287.3:c.1232T>G	NP_000278.3:p.Met411Arg
NM_001316313.1:c.968T>G	NP_001303242.1:p.Met323Arg
NR_133009.1:n.1325T>G
XM_011514661.1:c.1148T>G	XP_011512963.1:p.Met383Arg
XR_926246.1:n.1325T>G
XM_011514661.2:c.1148T>G	XP_011512963.1:p.Met383Arg
XR_001743466.2:n.2306T>G
NM_000287.4:c.1232T>G MANE Select	NP_000278.3:p.Met411Arg
NM_001316313.2:c.968T>G	NP_001303242.1:p.Met323Arg
NR_133009.2:n.1263T>G