Canonical Allele Identifier: CA313304359
Gene: PXMP4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33716847C>G , CM000682.2:g.33716847C>G GRCh38
NC_000020.10:g.32304653C>G , CM000682.1:g.32304653C>G GRCh37
NC_000020.9:g.31768314C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000409299.8:c.114-2111G>C MANE Select ENSP00000386385.3:n.114-2111G>C
ENST00000217398.3:c.114-2111G>C ENSP00000217398.3:n.114-2111G>C
ENST00000344022.7:c.114-2111G>C ENSP00000343071.3:n.114-2111G>C
ENST00000409299.7:c.114-2111G>C ENSP00000386385.3:n.114-2111G>C
NM_007238.4:c.114-2111G>C NP_009169.3:n.114-2111G>C
NM_183397.2:c.114-2111G>C NP_899634.1:n.114-2111G>C
NM_007238.5:c.114-2111G>C MANE Select NP_009169.3:n.114-2111G>C
NM_183397.3:c.114-2111G>C NP_899634.1:n.114-2111G>C