Canonical Allele Identifier: CA313304336
Gene: PXMP4 HGNC NCBI

Linked Data

dbSNP Id: rs189714901
gnomAD v2: 20-32304621-T-G
gnomAD v3: 20-33716815-T-G
gnomAD v4: 20-33716815-T-G
MyVariant Identifiers: chr20:g.32304621T>G (hg19) chr20:g.33716815T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33716815T>G , CM000682.2:g.33716815T>G GRCh38
NC_000020.10:g.32304621T>G , CM000682.1:g.32304621T>G GRCh37
NC_000020.9:g.31768282T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000409299.8:c.114-2079A>C MANE Select ENSP00000386385.3:n.114-2079A>C
ENST00000217398.3:c.114-2079A>C ENSP00000217398.3:n.114-2079A>C
ENST00000344022.7:c.114-2079A>C ENSP00000343071.3:n.114-2079A>C
ENST00000409299.7:c.114-2079A>C ENSP00000386385.3:n.114-2079A>C
NM_007238.4:c.114-2079A>C NP_009169.3:n.114-2079A>C
NM_183397.2:c.114-2079A>C NP_899634.1:n.114-2079A>C
NM_007238.5:c.114-2079A>C MANE Select NP_009169.3:n.114-2079A>C
NM_183397.3:c.114-2079A>C NP_899634.1:n.114-2079A>C
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