Canonical Allele Identifier: CA365764397
Gene: PEX7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136872204C>G , CM000668.2:g.136872204C>G GRCh38
NC_000006.11:g.137193342C>G , CM000668.1:g.137193342C>G GRCh37
NC_000006.10:g.137235035C>G NCBI36
NG_008462.1:g.54625C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000318471.5:c.754C>G MANE Select ENSP00000315680.3:p.Pro252Ala
ENST00000541292.6:c.*19C>G ENSP00000441004.1:n.*19C>G
ENST00000678002.1:c.442C>G
ENST00000678557.1:c.640C>G ENSP00000502962.1:p.Pro214Ala
ENST00000678593.1:c.759C>G ENSP00000503841.1:n.759C>G
ENST00000679286.1:c.634C>G ENSP00000503168.1:p.Pro212Ala
ENST00000318471.4:c.754C>G ENSP00000315680.3:p.Pro252Ala
NM_000288.3:c.754C>G NP_000279.1:p.Pro252Ala
XM_005267019.3:c.640C>G XP_005267076.1:p.Pro214Ala
XM_006715502.1:c.460C>G XP_006715565.1:p.Pro154Ala
XM_011535900.1:c.527-25938C>G XP_011534202.1:n.527-25938C>G
XM_005267019.4:c.640C>G XP_005267076.1:p.Pro214Ala
XM_006715502.2:c.460C>G XP_006715565.1:p.Pro154Ala
XM_017010934.2:c.527-25938C>G XP_016866423.1:n.527-25938C>G
NM_000288.4:c.754C>G MANE Select NP_000279.1:p.Pro252Ala