Canonical Allele Identifier: CA365764399
Gene: PEX7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136872205C>G , CM000668.2:g.136872205C>G GRCh38
NC_000006.11:g.137193343C>G , CM000668.1:g.137193343C>G GRCh37
NC_000006.10:g.137235036C>G NCBI36
NG_008462.1:g.54626C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000318471.5:c.755C>G MANE Select ENSP00000315680.3:p.Pro252Arg
ENST00000541292.6:c.*20C>G ENSP00000441004.1:n.*20C>G
ENST00000678002.1:c.443C>G
ENST00000678557.1:c.641C>G ENSP00000502962.1:p.Pro214Arg
ENST00000678593.1:c.760C>G ENSP00000503841.1:n.760C>G
ENST00000679286.1:c.635C>G ENSP00000503168.1:p.Pro212Arg
ENST00000318471.4:c.755C>G ENSP00000315680.3:p.Pro252Arg
NM_000288.3:c.755C>G NP_000279.1:p.Pro252Arg
XM_005267019.3:c.641C>G XP_005267076.1:p.Pro214Arg
XM_006715502.1:c.461C>G XP_006715565.1:p.Pro154Arg
XM_011535900.1:c.527-25937C>G XP_011534202.1:n.527-25937C>G
XM_005267019.4:c.641C>G XP_005267076.1:p.Pro214Arg
XM_006715502.2:c.461C>G XP_006715565.1:p.Pro154Arg
XM_017010934.2:c.527-25937C>G XP_016866423.1:n.527-25937C>G
NM_000288.4:c.755C>G MANE Select NP_000279.1:p.Pro252Arg