Canonical Allele Identifier: CA452228769

Gene: PEX7

Linked Data

• dbSNP Id: rs1308707237
• gnomAD v2: 6-137193341-A-C
• gnomAD v4: 6-136872203-A-C
• MyVariant Identifiers: chr6:g.137193341A>C (hg19) ; chr6:g.136872203A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872203A>C , CM000668.2:g.136872203A>C	GRCh38
NC_000006.11:g.137193341A>C , CM000668.1:g.137193341A>C	GRCh37
NC_000006.10:g.137235034A>C	NCBI36
NG_008462.1:g.54624A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.753A>C MANE Select	ENSP00000315680.3:p.Ser251=
ENST00000541292.6:c.*18A>C	ENSP00000441004.1:n.*18A>C
ENST00000678002.1:c.441A>C
ENST00000678557.1:c.639A>C	ENSP00000502962.1:p.Ser213=
ENST00000678593.1:c.758A>C	ENSP00000503841.1:n.758A>C
ENST00000679286.1:c.633A>C	ENSP00000503168.1:p.Ser211=
ENST00000318471.4:c.753A>C	ENSP00000315680.3:p.Ser251=
NM_000288.3:c.753A>C	NP_000279.1:p.Ser251=
XM_005267019.3:c.639A>C	XP_005267076.1:p.Ser213=
XM_006715502.1:c.459A>C	XP_006715565.1:p.Ser153=
XM_011535900.1:c.527-25939A>C	XP_011534202.1:n.527-25939A>C
XM_005267019.4:c.639A>C	XP_005267076.1:p.Ser213=
XM_006715502.2:c.459A>C	XP_006715565.1:p.Ser153=
XM_017010934.2:c.527-25939A>C	XP_016866423.1:n.527-25939A>C
NM_000288.4:c.753A>C MANE Select	NP_000279.1:p.Ser251=