Canonical Allele Identifier: CA148202477
Gene: PEX7 HGNC NCBI

Linked Data

dbSNP Id: rs903976869

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136872174T>C , CM000668.2:g.136872174T>C GRCh38
NC_000006.11:g.137193312T>C , CM000668.1:g.137193312T>C GRCh37
NC_000006.10:g.137235005T>C NCBI36
NG_008462.1:g.54595T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000318471.5:c.748-24T>C MANE Select ENSP00000315680.3:n.748-24T>C
ENST00000541292.6:c.*13-24T>C ENSP00000441004.1:n.*13-24T>C
ENST00000678002.1:c.436-24T>C
ENST00000678557.1:c.634-24T>C ENSP00000502962.1:n.634-24T>C
ENST00000678593.1:c.753-24T>C ENSP00000503841.1:n.753-24T>C
ENST00000679286.1:c.628-24T>C ENSP00000503168.1:n.628-24T>C
ENST00000318471.4:c.748-24T>C ENSP00000315680.3:n.748-24T>C
NM_000288.3:c.748-24T>C NP_000279.1:n.748-24T>C
XM_005267019.3:c.634-24T>C XP_005267076.1:n.634-24T>C
XM_006715502.1:c.454-24T>C XP_006715565.1:n.454-24T>C
XM_011535900.1:c.527-25968T>C XP_011534202.1:n.527-25968T>C
XM_005267019.4:c.634-24T>C XP_005267076.1:n.634-24T>C
XM_006715502.2:c.454-24T>C XP_006715565.1:n.454-24T>C
XM_017010934.2:c.527-25968T>C XP_016866423.1:n.527-25968T>C
NM_000288.4:c.748-24T>C MANE Select NP_000279.1:n.748-24T>C