Canonical Allele Identifier: CA365855441

Gene: PEX7

Linked Data

• dbSNP Id: rs61753238
• gnomAD v2: 6-137143923-C-A
• gnomAD v4: 6-136822785-C-A
• MyVariant Identifiers: chr6:g.137143923C>A (hg19) ; chr6:g.136822785C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136822785C>A , CM000668.2:g.136822785C>A	GRCh38
NC_000006.11:g.137143923C>A , CM000668.1:g.137143923C>A	GRCh37
NC_000006.10:g.137185616C>A	NCBI36
NG_008462.1:g.5206C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.120C>A MANE Select	ENSP00000315680.3:p.Tyr40Ter
ENST00000541292.6:c.120C>A	ENSP00000441004.1:p.Tyr40Ter
ENST00000678593.1:c.120C>A	ENSP00000503841.1:p.Tyr40Ter
ENST00000318471.4:c.120C>A	ENSP00000315680.3:p.Tyr40Ter
ENST00000367756.8:c.120C>A	ENSP00000356730.4:p.Tyr40Ter
ENST00000541292.5:c.120C>A	ENSP00000441004.1:p.Tyr40Ter
NM_000288.3:c.120C>A	NP_000279.1:p.Tyr40Ter
XM_006715502.1:c.120C>A	XP_006715565.1:p.Tyr40Ter
XM_011535900.1:c.120C>A	XP_011534202.1:p.Tyr40Ter
XM_006715502.2:c.120C>A	XP_006715565.1:p.Tyr40Ter
XM_017010934.2:c.120C>A	XP_016866423.1:p.Tyr40Ter
NM_000288.4:c.120C>A MANE Select	NP_000279.1:p.Tyr40Ter