Canonical Allele Identifier: CA2816188827

Gene: PXMP4

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33716884G>A , CM000682.2:g.33716884G>A	GRCh38
NC_000020.10:g.32304690G>A , CM000682.1:g.32304690G>A	GRCh37
NC_000020.9:g.31768351G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409299.8:c.114-2148C>T MANE Select	ENSP00000386385.3:n.114-2148C>T
ENST00000217398.3:c.114-2148C>T	ENSP00000217398.3:n.114-2148C>T
ENST00000344022.7:c.114-2148C>T	ENSP00000343071.3:n.114-2148C>T
ENST00000409299.7:c.114-2148C>T	ENSP00000386385.3:n.114-2148C>T
NM_007238.4:c.114-2148C>T	NP_009169.3:n.114-2148C>T
NM_183397.2:c.114-2148C>T	NP_899634.1:n.114-2148C>T
NM_007238.5:c.114-2148C>T MANE Select	NP_009169.3:n.114-2148C>T
NM_183397.3:c.114-2148C>T	NP_899634.1:n.114-2148C>T