Canonical Allele Identifier: CA2680487884

Gene: PEX7

Linked Data

• gnomAD v4: 6-136822626-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136822626T>C , CM000668.2:g.136822626T>C	GRCh38
NC_000006.11:g.137143764T>C , CM000668.1:g.137143764T>C	GRCh37
NC_000006.10:g.137185457T>C	NCBI36
NG_008462.1:g.5047T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.-40T>C MANE Select	ENSP00000315680.3:n.-40T>C
ENST00000541292.6:c.-40T>C	ENSP00000441004.1:n.-40T>C
ENST00000318471.4:c.-40T>C	ENSP00000315680.3:n.-40T>C
ENST00000367756.8:c.-40T>C	ENSP00000356730.4:n.-40T>C
ENST00000541292.5:c.-40T>C	ENSP00000441004.1:n.-40T>C
NM_000288.3:c.-40T>C	NP_000279.1:n.-40T>C
XM_006715502.1:c.-40T>C	XP_006715565.1:n.-40T>C
XM_011535900.1:c.-40T>C	XP_011534202.1:n.-40T>C
XM_006715502.2:c.-40T>C	XP_006715565.1:n.-40T>C
XM_017010934.2:c.-40T>C	XP_016866423.1:n.-40T>C
NM_000288.4:c.-40T>C MANE Select	NP_000279.1:n.-40T>C