Canonical Allele Identifier: CA2680490176

Gene: PEX7

Linked Data

• gnomAD v4: 6-136898090-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898090G>C , CM000668.2:g.136898090G>C	GRCh38
NC_000006.11:g.137219228G>C , CM000668.1:g.137219228G>C	GRCh37
NC_000006.10:g.137260921G>C	NCBI36
NG_008462.1:g.80511G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.804-52G>C MANE Select	ENSP00000315680.3:n.804-52G>C
ENST00000541292.6:c.*69-52G>C	ENSP00000441004.1:n.*69-52G>C
ENST00000678002.1:c.492-52G>C
ENST00000678557.1:c.690-52G>C	ENSP00000502962.1:n.690-52G>C
ENST00000679286.1:c.684-52G>C	ENSP00000503168.1:n.684-52G>C
ENST00000318471.4:c.804-52G>C	ENSP00000315680.3:n.804-52G>C
NM_000288.3:c.804-52G>C	NP_000279.1:n.804-52G>C
XM_005267019.3:c.690-52G>C	XP_005267076.1:n.690-52G>C
XM_006715502.1:c.510-52G>C	XP_006715565.1:n.510-52G>C
XM_011535900.1:c.527-52G>C	XP_011534202.1:n.527-52G>C
XM_005267019.4:c.690-52G>C	XP_005267076.1:n.690-52G>C
XM_006715502.2:c.510-52G>C	XP_006715565.1:n.510-52G>C
XM_017010934.2:c.527-52G>C	XP_016866423.1:n.527-52G>C
NM_000288.4:c.804-52G>C MANE Select	NP_000279.1:n.804-52G>C