Canonical Allele Identifier: CA452227927
Gene: PEX7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.137191132G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136869994G>A , CM000668.2:g.136869994G>A GRCh38
NC_000006.11:g.137191132G>A , CM000668.1:g.137191132G>A GRCh37
NC_000006.10:g.137232825G>A NCBI36
NG_008462.1:g.52415G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000318471.5:c.738G>A MANE Select ENSP00000315680.3:p.Arg246=
ENST00000541292.6:c.738G>A ENSP00000441004.1:p.Arg246=
ENST00000678002.1:c.426G>A
ENST00000678557.1:c.624G>A ENSP00000502962.1:p.Arg208=
ENST00000678593.1:c.743G>A ENSP00000503841.1:n.743G>A
ENST00000679286.1:c.618G>A ENSP00000503168.1:p.Arg206=
ENST00000318471.4:c.738G>A ENSP00000315680.3:p.Arg246=
ENST00000541292.5:c.738G>A ENSP00000441004.1:p.Arg246=
NM_000288.3:c.738G>A NP_000279.1:p.Arg246=
XM_005267019.3:c.624G>A XP_005267076.1:p.Arg208=
XM_006715502.1:c.444G>A XP_006715565.1:p.Arg148=
XM_011535900.1:c.526+23813G>A XP_011534202.1:n.526+23813G>A
XM_005267019.4:c.624G>A XP_005267076.1:p.Arg208=
XM_006715502.2:c.444G>A XP_006715565.1:p.Arg148=
XM_017010934.2:c.526+23813G>A XP_016866423.1:n.526+23813G>A
NM_000288.4:c.738G>A MANE Select NP_000279.1:p.Arg246=