Canonical Allele Identifier: CA365855256

Gene: PEX7

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136822732G>C , CM000668.2:g.136822732G>C	GRCh38
NC_000006.11:g.137143870G>C , CM000668.1:g.137143870G>C	GRCh37
NC_000006.10:g.137185563G>C	NCBI36
NG_008462.1:g.5153G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000288.4:c.67G>C MANE Select	NP_000279.1:p.Glu23Gln
ENST00000318471.5:c.67G>C MANE Select	ENSP00000315680.3:p.Glu23Gln
NM_000288.3:c.67G>C	NP_000279.1:p.Glu23Gln
ENST00000318471.4:c.67G>C	ENSP00000315680.3:p.Glu23Gln
ENST00000367756.8:c.67G>C	ENSP00000356730.4:p.Glu23Gln
ENST00000541292.5:c.67G>C	ENSP00000441004.1:p.Glu23Gln
ENST00000541292.6:c.67G>C	ENSP00000441004.1:p.Glu23Gln
ENST00000678593.1:c.67G>C	ENSP00000503841.1:p.Glu23Gln
XM_006715502.1:c.67G>C	XP_006715565.1:p.Glu23Gln
XM_006715502.2:c.67G>C	XP_006715565.1:p.Glu23Gln
XM_011535900.1:c.67G>C	XP_011534202.1:p.Glu23Gln
XM_017010934.2:c.67G>C	XP_016866423.1:p.Glu23Gln