Canonical Allele Identifier: CA321288866

Gene: PEX26

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18083734T>C , CM000684.2:g.18083734T>C	GRCh38
NC_000022.10:g.18566500T>C , CM000684.1:g.18566500T>C	GRCh37
NC_000022.9:g.16946500T>C	NCBI36
NG_008339.1:g.10815T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001127649.3:c.667+2T>C MANE Select	NP_001121121.1:n.667+2T>C
ENST00000399744.8:c.667+2T>C MANE Select	ENSP00000382648.4:n.667+2T>C
NM_001127649.2:c.667+2T>C	NP_001121121.1:n.667+2T>C
NM_001199319.1:c.667+2T>C	NP_001186248.1:n.667+2T>C
NM_001199319.2:c.667+2T>C	NP_001186248.1:n.667+2T>C
NM_017929.5:c.667+2T>C	NP_060399.1:n.667+2T>C
NM_017929.6:c.667+2T>C	NP_060399.1:n.667+2T>C
ENST00000329627.11:c.667+2T>C	ENSP00000331106.5:n.667+2T>C
ENST00000399744.7:c.667+2T>C	ENSP00000382648.3:n.667+2T>C
ENST00000428061.2:c.667+2T>C	ENSP00000412441.2:n.667+2T>C
ENST00000474897.5:c.371+3720T>C	ENSP00000434235.1:n.371+3720T>C
ENST00000474897.6:c.667+2T>C	ENSP00000434235.2:n.667+2T>C
ENST00000610387.4:c.667+2T>C	ENSP00000482091.1:n.667+2T>C