Canonical Allele Identifier: CA570574085

Gene: PEX7

Linked Data

• dbSNP Id: rs1445637798
• gnomAD v2: 6-137193397-G-C
• gnomAD v4: 6-136872259-G-C
• MyVariant Identifiers: chr6:g.137193397G>C (hg19) ; chr6:g.136872259G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872259G>C , CM000668.2:g.136872259G>C	GRCh38
NC_000006.11:g.137193397G>C , CM000668.1:g.137193397G>C	GRCh37
NC_000006.10:g.137235090G>C	NCBI36
NG_008462.1:g.54680G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.803+6G>C MANE Select	ENSP00000315680.3:n.803+6G>C
ENST00000541292.6:c.*68+6G>C	ENSP00000441004.1:n.*68+6G>C
ENST00000678002.1:c.491+6G>C
ENST00000678557.1:c.689+6G>C	ENSP00000502962.1:n.689+6G>C
ENST00000678593.1:c.814G>C	ENSP00000503841.1:n.814G>C
ENST00000679286.1:c.683+6G>C	ENSP00000503168.1:n.683+6G>C
ENST00000318471.4:c.803+6G>C	ENSP00000315680.3:n.803+6G>C
NM_000288.3:c.803+6G>C	NP_000279.1:n.803+6G>C
XM_005267019.3:c.689+6G>C	XP_005267076.1:n.689+6G>C
XM_006715502.1:c.509+6G>C	XP_006715565.1:n.509+6G>C
XM_011535900.1:c.527-25883G>C	XP_011534202.1:n.527-25883G>C
XM_005267019.4:c.689+6G>C	XP_005267076.1:n.689+6G>C
XM_006715502.2:c.509+6G>C	XP_006715565.1:n.509+6G>C
XM_017010934.2:c.527-25883G>C	XP_016866423.1:n.527-25883G>C
NM_000288.4:c.803+6G>C MANE Select	NP_000279.1:n.803+6G>C