Canonical Allele Identifier: CA365767216

Gene: PEX7

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136913465A>T , CM000668.2:g.136913465A>T	GRCh38
NC_000006.11:g.137234603A>T , CM000668.1:g.137234603A>T	GRCh37
NC_000006.10:g.137276296A>T	NCBI36
NG_008462.1:g.95886A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000288.4:c.911A>T MANE Select	NP_000279.1:p.Asp304Val
ENST00000318471.5:c.911A>T MANE Select	ENSP00000315680.3:p.Asp304Val
NM_000288.3:c.911A>T	NP_000279.1:p.Asp304Val
ENST00000318471.4:c.911A>T	ENSP00000315680.3:p.Asp304Val
ENST00000541292.6:c.*176A>T	ENSP00000441004.1:n.*176A>T
ENST00000678002.1:c.599A>T
ENST00000678557.1:c.797A>T	ENSP00000502962.1:p.Asp266Val
ENST00000679286.1:c.791A>T	ENSP00000503168.1:p.Asp264Val
XM_005267019.3:c.797A>T	XP_005267076.1:p.Asp266Val
XM_005267019.4:c.797A>T	XP_005267076.1:p.Asp266Val
XM_006715502.1:c.617A>T	XP_006715565.1:p.Asp206Val
XM_006715502.2:c.617A>T	XP_006715565.1:p.Asp206Val
XM_017010934.2:c.*34A>T	XP_016866423.1:n.*34A>T