Canonical Allele Identifier: CA3134712009
Community Standard Title: NM_000288.4(PEX7):c.120C= (p.Tyr40=)
Gene: PEX7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136822785C= , CM000668.2:g.136822785C= GRCh38
NC_000006.11:g.137143923C= , CM000668.1:g.137143923C= GRCh37
NC_000006.10:g.137185616C= NCBI36
NG_008462.1:g.5206C=

Transcript Alleles

HGVS Amino-acid Change
NM_000288.4:c.120C= MANE Select NP_000279.1:p.Tyr40=
ENST00000318471.5:c.120C= MANE Select ENSP00000315680.3:p.Tyr40=
NM_000288.3:c.120C= NP_000279.1:p.Tyr40=
ENST00000318471.4:c.120C= ENSP00000315680.3:p.Tyr40=
ENST00000367756.8:c.120C= ENSP00000356730.4:p.Tyr40=
ENST00000541292.5:c.120C= ENSP00000441004.1:p.Tyr40=
ENST00000541292.6:c.120C= ENSP00000441004.1:p.Tyr40=
ENST00000678593.1:c.120C= ENSP00000503841.1:p.Tyr40=
XM_006715502.1:c.120C= XP_006715565.1:p.Tyr40=
XM_006715502.2:c.120C= XP_006715565.1:p.Tyr40=
XM_011535900.1:c.120C= XP_011534202.1:p.Tyr40=
XM_017010934.2:c.120C= XP_016866423.1:p.Tyr40=