Canonical Allele Identifier: CA452376348
Gene: PEX7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.137147475T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136826337T>G , CM000668.2:g.136826337T>G GRCh38
NC_000006.11:g.137147475T>G , CM000668.1:g.137147475T>G GRCh37
NC_000006.10:g.137189168T>G NCBI36
NG_008462.1:g.8758T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.207T>G MANE Select ENSP00000315680.3:p.Gly69=
ENST00000541292.6:c.207T>G ENSP00000441004.1:p.Gly69=
ENST00000678002.1:c.82T>G
ENST00000678557.1:c.93T>G ENSP00000502962.1:p.Gly31=
ENST00000678593.1:c.212T>G ENSP00000503841.1:p.Val71Gly
ENST00000679286.1:c.87T>G ENSP00000503168.1:p.Gly29=
ENST00000318471.4:c.207T>G ENSP00000315680.3:p.Gly69=
ENST00000367756.8:c.207T>G ENSP00000356730.4:p.Gly69=
ENST00000541292.5:c.207T>G ENSP00000441004.1:p.Gly69=
NM_000288.3:c.207T>G NP_000279.1:p.Gly69=
XM_005267019.3:c.93T>G XP_005267076.1:p.Gly31=
XM_006715502.1:c.207T>G XP_006715565.1:p.Gly69=
XM_011535900.1:c.207T>G XP_011534202.1:p.Gly69=
XM_005267019.4:c.93T>G XP_005267076.1:p.Gly31=
XM_006715502.2:c.207T>G XP_006715565.1:p.Gly69=
XM_017010934.2:c.207T>G XP_016866423.1:p.Gly69=
NM_000288.4:c.207T>G MANE Select NP_000279.1:p.Gly69=