Canonical Allele Identifier: CA365764386
Gene: PEX7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136872199T>C , CM000668.2:g.136872199T>C GRCh38
NC_000006.11:g.137193337T>C , CM000668.1:g.137193337T>C GRCh37
NC_000006.10:g.137235030T>C NCBI36
NG_008462.1:g.54620T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000318471.5:c.749T>C MANE Select ENSP00000315680.3:p.Phe250Ser
ENST00000541292.6:c.*14T>C ENSP00000441004.1:n.*14T>C
ENST00000678002.1:c.437T>C
ENST00000678557.1:c.635T>C ENSP00000502962.1:p.Phe212Ser
ENST00000678593.1:c.754T>C ENSP00000503841.1:n.754T>C
ENST00000679286.1:c.629T>C ENSP00000503168.1:p.Phe210Ser
ENST00000318471.4:c.749T>C ENSP00000315680.3:p.Phe250Ser
NM_000288.3:c.749T>C NP_000279.1:p.Phe250Ser
XM_005267019.3:c.635T>C XP_005267076.1:p.Phe212Ser
XM_006715502.1:c.455T>C XP_006715565.1:p.Phe152Ser
XM_011535900.1:c.527-25943T>C XP_011534202.1:n.527-25943T>C
XM_005267019.4:c.635T>C XP_005267076.1:p.Phe212Ser
XM_006715502.2:c.455T>C XP_006715565.1:p.Phe152Ser
XM_017010934.2:c.527-25943T>C XP_016866423.1:n.527-25943T>C
NM_000288.4:c.749T>C MANE Select NP_000279.1:p.Phe250Ser