Canonical Allele Identifier: CA2360881309
Gene: PXMP4 HGNC NCBI

Linked Data

dbSNP Id: rs2018387333
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33716811C>T , CM000682.2:g.33716811C>T GRCh38
NC_000020.10:g.32304617C>T , CM000682.1:g.32304617C>T GRCh37
NC_000020.9:g.31768278C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000409299.8:c.114-2075G>A MANE Select ENSP00000386385.3:n.114-2075G>A
ENST00000217398.3:c.114-2075G>A ENSP00000217398.3:n.114-2075G>A
ENST00000344022.7:c.114-2075G>A ENSP00000343071.3:n.114-2075G>A
ENST00000409299.7:c.114-2075G>A ENSP00000386385.3:n.114-2075G>A
NM_007238.4:c.114-2075G>A NP_009169.3:n.114-2075G>A
NM_183397.2:c.114-2075G>A NP_899634.1:n.114-2075G>A
NM_007238.5:c.114-2075G>A MANE Select NP_009169.3:n.114-2075G>A
NM_183397.3:c.114-2075G>A NP_899634.1:n.114-2075G>A
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