Canonical Allele Identifier: CA2773213628
Gene: PEX7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136866798T>G , CM000668.2:g.136866798T>G GRCh38
NC_000006.11:g.137187936T>G , CM000668.1:g.137187936T>G GRCh37
NC_000006.10:g.137229629T>G NCBI36
NG_008462.1:g.49219T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.633+65T>G MANE Select ENSP00000315680.3:n.633+65T>G
ENST00000541292.6:c.633+65T>G ENSP00000441004.1:n.633+65T>G
ENST00000678002.1:c.321+65T>G
ENST00000678557.1:c.519+65T>G ENSP00000502962.1:n.519+65T>G
ENST00000678593.1:c.638+65T>G ENSP00000503841.1:n.638+65T>G
ENST00000679286.1:c.513+65T>G ENSP00000503168.1:n.513+65T>G
ENST00000318471.4:c.633+65T>G ENSP00000315680.3:n.633+65T>G
ENST00000541292.5:c.633+65T>G ENSP00000441004.1:n.633+65T>G
NM_000288.3:c.633+65T>G NP_000279.1:n.633+65T>G
XM_005267019.3:c.519+65T>G XP_005267076.1:n.519+65T>G
XM_006715502.1:c.340-3092T>G XP_006715565.1:n.340-3092T>G
XM_011535900.1:c.526+20617T>G XP_011534202.1:n.526+20617T>G
XM_005267019.4:c.519+65T>G XP_005267076.1:n.519+65T>G
XM_006715502.2:c.340-3092T>G XP_006715565.1:n.340-3092T>G
XM_017010934.2:c.526+20617T>G XP_016866423.1:n.526+20617T>G
NM_000288.4:c.633+65T>G MANE Select NP_000279.1:n.633+65T>G