Canonical Allele Identifier: CA2680490414

Gene: PEX7

Linked Data

• gnomAD v4: 6-136898386-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898386A>C , CM000668.2:g.136898386A>C	GRCh38
NC_000006.11:g.137219524A>C , CM000668.1:g.137219524A>C	GRCh37
NC_000006.10:g.137261217A>C	NCBI36
NG_008462.1:g.80807A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.903+145A>C MANE Select	ENSP00000315680.3:n.903+145A>C
ENST00000541292.6:c.*168+145A>C	ENSP00000441004.1:n.*168+145A>C
ENST00000678002.1:c.591+145A>C
ENST00000678557.1:c.789+145A>C	ENSP00000502962.1:n.789+145A>C
ENST00000679286.1:c.783+145A>C	ENSP00000503168.1:n.783+145A>C
ENST00000318471.4:c.903+145A>C	ENSP00000315680.3:n.903+145A>C
NM_000288.3:c.903+145A>C	NP_000279.1:n.903+145A>C
XM_005267019.3:c.789+145A>C	XP_005267076.1:n.789+145A>C
XM_006715502.1:c.609+145A>C	XP_006715565.1:n.609+145A>C
XM_005267019.4:c.789+145A>C	XP_005267076.1:n.789+145A>C
XM_006715502.2:c.609+145A>C	XP_006715565.1:n.609+145A>C
XM_017010934.2:c.*26+145A>C	XP_016866423.1:n.*26+145A>C
NM_000288.4:c.903+145A>C MANE Select	NP_000279.1:n.903+145A>C