Canonical Allele Identifier: CA570743697

Gene: PEX7

Linked Data

• dbSNP Id: rs1238255187
• gnomAD v2: 6-137143736-G-C
• gnomAD v3: 6-136822598-G-C
• gnomAD v4: 6-136822598-G-C
• MyVariant Identifiers: chr6:g.137143736G>C (hg19) ; chr6:g.136822598G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136822598G>C , CM000668.2:g.136822598G>C	GRCh38
NC_000006.11:g.137143736G>C , CM000668.1:g.137143736G>C	GRCh37
NC_000006.10:g.137185429G>C	NCBI36
NG_008462.1:g.5019G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.-68G>C MANE Select	ENSP00000315680.3:n.-68G>C
ENST00000541292.6:c.-68G>C	ENSP00000441004.1:n.-68G>C
ENST00000318471.4:c.-68G>C	ENSP00000315680.3:n.-68G>C
ENST00000367756.8:c.-68G>C	ENSP00000356730.4:n.-68G>C
ENST00000541292.5:c.-68G>C	ENSP00000441004.1:n.-68G>C
NM_000288.3:c.-68G>C	NP_000279.1:n.-68G>C
XM_006715502.1:c.-68G>C	XP_006715565.1:n.-68G>C
XM_011535900.1:c.-68G>C	XP_011534202.1:n.-68G>C
XM_006715502.2:c.-68G>C	XP_006715565.1:n.-68G>C
XM_017010934.2:c.-68G>C	XP_016866423.1:n.-68G>C
NM_000288.4:c.-68G>C MANE Select	NP_000279.1:n.-68G>C