Canonical Allele Identifier: CA364170153

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42979149A>G , CM000668.2:g.42979149A>G	GRCh38
NC_000006.11:g.42946887A>G , CM000668.1:g.42946887A>G	GRCh37
NC_000006.10:g.43054865A>G	NCBI36
NG_008370.1:g.5095T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.2T>C MANE Select	NP_000278.3:p.Met1Thr
ENST00000304611.13:c.2T>C MANE Select	ENSP00000303511.8:p.Met1Thr
NM_000287.3:c.2T>C	NP_000278.3:p.Met1Thr
NM_001316313.1:c.2T>C	NP_001303242.1:p.Met1Thr
NM_001316313.2:c.2T>C	NP_001303242.1:p.Met1Thr
NR_133009.1:n.95T>C
NR_133009.2:n.33T>C
ENST00000244546.4:c.2T>C	ENSP00000244546.4:p.Met1Thr
ENST00000304611.12:c.2T>C	ENSP00000303511.8:p.Met1Thr
XM_011514661.1:c.2T>C	XP_011512963.1:p.Met1Thr
XM_011514661.2:c.2T>C	XP_011512963.1:p.Met1Thr
XR_001743466.2:n.1076T>C
XR_926246.1:n.95T>C