Canonical Allele Identifier: CA2360881296
Gene: PXMP4 HGNC NCBI

Linked Data

dbSNP Id: rs2018386955
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33716775A>G , CM000682.2:g.33716775A>G GRCh38
NC_000020.10:g.32304581A>G , CM000682.1:g.32304581A>G GRCh37
NC_000020.9:g.31768242A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000409299.8:c.114-2039T>C MANE Select ENSP00000386385.3:n.114-2039T>C
ENST00000217398.3:c.114-2039T>C ENSP00000217398.3:n.114-2039T>C
ENST00000344022.7:c.114-2039T>C ENSP00000343071.3:n.114-2039T>C
ENST00000409299.7:c.114-2039T>C ENSP00000386385.3:n.114-2039T>C
NM_007238.4:c.114-2039T>C NP_009169.3:n.114-2039T>C
NM_183397.2:c.114-2039T>C NP_899634.1:n.114-2039T>C
NM_007238.5:c.114-2039T>C MANE Select NP_009169.3:n.114-2039T>C
NM_183397.3:c.114-2039T>C NP_899634.1:n.114-2039T>C
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