Canonical Allele Identifier: CA570743720

Gene: PEX7

Linked Data

• dbSNP Id: rs1430662274
• gnomAD v2: 6-137143766-C-T
• gnomAD v4: 6-136822628-C-T
• MyVariant Identifiers: chr6:g.137143766C>T (hg19) ; chr6:g.136822628C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136822628C>T , CM000668.2:g.136822628C>T	GRCh38
NC_000006.11:g.137143766C>T , CM000668.1:g.137143766C>T	GRCh37
NC_000006.10:g.137185459C>T	NCBI36
NG_008462.1:g.5049C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.-38C>T MANE Select	ENSP00000315680.3:n.-38C>T
ENST00000541292.6:c.-38C>T	ENSP00000441004.1:n.-38C>T
ENST00000318471.4:c.-38C>T	ENSP00000315680.3:n.-38C>T
ENST00000367756.8:c.-38C>T	ENSP00000356730.4:n.-38C>T
ENST00000541292.5:c.-38C>T	ENSP00000441004.1:n.-38C>T
NM_000288.3:c.-38C>T	NP_000279.1:n.-38C>T
XM_006715502.1:c.-38C>T	XP_006715565.1:n.-38C>T
XM_011535900.1:c.-38C>T	XP_011534202.1:n.-38C>T
XM_006715502.2:c.-38C>T	XP_006715565.1:n.-38C>T
XM_017010934.2:c.-38C>T	XP_016866423.1:n.-38C>T
NM_000288.4:c.-38C>T MANE Select	NP_000279.1:n.-38C>T