Canonical Allele Identifier: CA819535134

Gene: PEX7

Linked Data

• dbSNP Id: rs1408603420
• gnomAD v3: 6-136872009-T-C
• gnomAD v4: 6-136872009-T-C
• MyVariant Identifiers: chr6:g.137193147T>C (hg19) ; chr6:g.136872009T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872009T>C , CM000668.2:g.136872009T>C	GRCh38
NC_000006.11:g.137193147T>C , CM000668.1:g.137193147T>C	GRCh37
NC_000006.10:g.137234840T>C	NCBI36
NG_008462.1:g.54430T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.748-189T>C MANE Select	ENSP00000315680.3:n.748-189T>C
ENST00000541292.6:c.*13-189T>C	ENSP00000441004.1:n.*13-189T>C
ENST00000678002.1:c.436-189T>C
ENST00000678557.1:c.634-189T>C	ENSP00000502962.1:n.634-189T>C
ENST00000678593.1:c.753-189T>C	ENSP00000503841.1:n.753-189T>C
ENST00000679286.1:c.628-189T>C	ENSP00000503168.1:n.628-189T>C
ENST00000318471.4:c.748-189T>C	ENSP00000315680.3:n.748-189T>C
NM_000288.3:c.748-189T>C	NP_000279.1:n.748-189T>C
XM_005267019.3:c.634-189T>C	XP_005267076.1:n.634-189T>C
XM_006715502.1:c.454-189T>C	XP_006715565.1:n.454-189T>C
XM_011535900.1:c.526+25828T>C	XP_011534202.1:n.526+25828T>C
XM_005267019.4:c.634-189T>C	XP_005267076.1:n.634-189T>C
XM_006715502.2:c.454-189T>C	XP_006715565.1:n.454-189T>C
XM_017010934.2:c.526+25828T>C	XP_016866423.1:n.526+25828T>C
NM_000288.4:c.748-189T>C MANE Select	NP_000279.1:n.748-189T>C