Canonical Allele Identifier: CA365766798

Gene: PEX7

Linked Data

• dbSNP Id: rs1459591337
• gnomAD v2: 6-137219359-A-C
• gnomAD v4: 6-136898221-A-C
• MyVariant Identifiers: chr6:g.137219359A>C (hg19) ; chr6:g.136898221A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898221A>C , CM000668.2:g.136898221A>C	GRCh38
NC_000006.11:g.137219359A>C , CM000668.1:g.137219359A>C	GRCh37
NC_000006.10:g.137261052A>C	NCBI36
NG_008462.1:g.80642A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.883A>C MANE Select	ENSP00000315680.3:p.Ser295Arg
ENST00000541292.6:c.*148A>C	ENSP00000441004.1:n.*148A>C
ENST00000678002.1:c.571A>C
ENST00000678557.1:c.769A>C	ENSP00000502962.1:p.Ser257Arg
ENST00000679286.1:c.763A>C	ENSP00000503168.1:p.Ser255Arg
ENST00000318471.4:c.883A>C	ENSP00000315680.3:p.Ser295Arg
NM_000288.3:c.883A>C	NP_000279.1:p.Ser295Arg
XM_005267019.3:c.769A>C	XP_005267076.1:p.Ser257Arg
XM_006715502.1:c.589A>C	XP_006715565.1:p.Ser197Arg
XM_011535900.1:c.*6A>C	XP_011534202.1:n.*6A>C
XM_005267019.4:c.769A>C	XP_005267076.1:p.Ser257Arg
XM_006715502.2:c.589A>C	XP_006715565.1:p.Ser197Arg
XM_017010934.2:c.*6A>C	XP_016866423.1:n.*6A>C
NM_000288.4:c.883A>C MANE Select	NP_000279.1:p.Ser295Arg