Canonical Allele Identifier: CA365766542
Gene: PEX7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136898150A>G , CM000668.2:g.136898150A>G GRCh38
NC_000006.11:g.137219288A>G , CM000668.1:g.137219288A>G GRCh37
NC_000006.10:g.137260981A>G NCBI36
NG_008462.1:g.80571A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.812A>G MANE Select ENSP00000315680.3:p.Asn271Ser
ENST00000541292.6:c.*77A>G ENSP00000441004.1:n.*77A>G
ENST00000678002.1:c.500A>G
ENST00000678557.1:c.698A>G ENSP00000502962.1:p.Asn233Ser
ENST00000679286.1:c.692A>G ENSP00000503168.1:p.Asn231Ser
ENST00000318471.4:c.812A>G ENSP00000315680.3:p.Asn271Ser
NM_000288.3:c.812A>G NP_000279.1:p.Asn271Ser
XM_005267019.3:c.698A>G XP_005267076.1:p.Asn233Ser
XM_006715502.1:c.518A>G XP_006715565.1:p.Asn173Ser
XM_011535900.1:c.535A>G XP_011534202.1:p.Thr179Ala
XM_005267019.4:c.698A>G XP_005267076.1:p.Asn233Ser
XM_006715502.2:c.518A>G XP_006715565.1:p.Asn173Ser
XM_017010934.2:c.535A>G XP_016866423.1:p.Thr179Ala
NM_000288.4:c.812A>G MANE Select NP_000279.1:p.Asn271Ser