Canonical Allele Identifier: CA3135031218
Gene: PEX7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136845675G= , CM000668.2:g.136845675G= GRCh38
NC_000006.11:g.137166813G= , CM000668.1:g.137166813G= GRCh37
NC_000006.10:g.137208506G= NCBI36
NG_008462.1:g.28096G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.400G= MANE Select ENSP00000315680.3:p.Asp134=
ENST00000541292.6:c.400G= ENSP00000441004.1:p.Asp134=
ENST00000678002.1:c.214+19206G=
ENST00000678557.1:c.286G= ENSP00000502962.1:p.Asp96=
ENST00000678593.1:c.405G= ENSP00000503841.1:n.405G=
ENST00000679286.1:c.280G= ENSP00000503168.1:p.Asp94=
ENST00000318471.4:c.400G= ENSP00000315680.3:p.Asp134=
ENST00000541292.5:c.400G= ENSP00000441004.1:p.Asp134=
NM_000288.3:c.400G= NP_000279.1:p.Asp134=
XM_005267019.3:c.286G= XP_005267076.1:p.Asp96=
XM_006715502.1:c.339+19206G= XP_006715565.1:n.339+19206G=
XM_011535900.1:c.400G= XP_011534202.1:p.Asp134=
XM_005267019.4:c.286G= XP_005267076.1:p.Asp96=
XM_006715502.2:c.339+19206G= XP_006715565.1:n.339+19206G=
XM_017010934.2:c.400G= XP_016866423.1:p.Asp134=
NM_000288.4:c.400G= MANE Select NP_000279.1:p.Asp134=