Canonical Allele Identifier: CA2637282707

Gene: PEX12

Linked Data

• gnomAD v4: 17-35576184-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35576184G>A , CM000679.2:g.35576184G>A	GRCh38
NC_000017.10:g.33903203G>A , CM000679.1:g.33903203G>A	GRCh37
NC_000017.9:g.30927316G>A	NCBI36
NG_008447.1:g.7454C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225873.9:c.681-3C>T MANE Select	ENSP00000225873.3:n.681-3C>T
ENST00000586663.2:c.681-3C>T	ENSP00000466894.2:n.681-3C>T
ENST00000225873.8:c.681-3C>T	ENSP00000225873.3:n.681-3C>T
ENST00000586663.1:c.681-3C>T	ENSP00000466894.1:n.681-3C>T
ENST00000613219.4:c.681-3C>T	ENSP00000482609.1:n.681-3C>T
NM_000286.2:c.681-3C>T	NP_000277.1:n.681-3C>T
NM_000286.3:c.681-3C>T MANE Select	NP_000277.1:n.681-3C>T