Canonical Allele Identifier: CA148202448
Gene: PEX7 HGNC NCBI

Linked Data

dbSNP Id: rs1013414538

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136872163C>T , CM000668.2:g.136872163C>T GRCh38
NC_000006.11:g.137193301C>T , CM000668.1:g.137193301C>T GRCh37
NC_000006.10:g.137234994C>T NCBI36
NG_008462.1:g.54584C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000318471.5:c.748-35C>T MANE Select ENSP00000315680.3:n.748-35C>T
ENST00000541292.6:c.*13-35C>T ENSP00000441004.1:n.*13-35C>T
ENST00000678002.1:c.436-35C>T
ENST00000678557.1:c.634-35C>T ENSP00000502962.1:n.634-35C>T
ENST00000678593.1:c.753-35C>T ENSP00000503841.1:n.753-35C>T
ENST00000679286.1:c.628-35C>T ENSP00000503168.1:n.628-35C>T
ENST00000318471.4:c.748-35C>T ENSP00000315680.3:n.748-35C>T
NM_000288.3:c.748-35C>T NP_000279.1:n.748-35C>T
XM_005267019.3:c.634-35C>T XP_005267076.1:n.634-35C>T
XM_006715502.1:c.454-35C>T XP_006715565.1:n.454-35C>T
XM_011535900.1:c.527-25979C>T XP_011534202.1:n.527-25979C>T
XM_005267019.4:c.634-35C>T XP_005267076.1:n.634-35C>T
XM_006715502.2:c.454-35C>T XP_006715565.1:n.454-35C>T
XM_017010934.2:c.527-25979C>T XP_016866423.1:n.527-25979C>T
NM_000288.4:c.748-35C>T MANE Select NP_000279.1:n.748-35C>T