Canonical Allele Identifier: CA313304364
Gene: PXMP4 HGNC NCBI

Linked Data

dbSNP Id: rs1024373813
gnomAD v3: 20-33716887-G-C
gnomAD v4: 20-33716887-G-C
MyVariant Identifiers: chr20:g.33716887G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33716887G>C , CM000682.2:g.33716887G>C GRCh38
NC_000020.10:g.32304693G>C , CM000682.1:g.32304693G>C GRCh37
NC_000020.9:g.31768354G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000409299.8:c.114-2151C>G MANE Select ENSP00000386385.3:n.114-2151C>G
ENST00000217398.3:c.114-2151C>G ENSP00000217398.3:n.114-2151C>G
ENST00000344022.7:c.114-2151C>G ENSP00000343071.3:n.114-2151C>G
ENST00000409299.7:c.114-2151C>G ENSP00000386385.3:n.114-2151C>G
NM_007238.4:c.114-2151C>G NP_009169.3:n.114-2151C>G
NM_183397.2:c.114-2151C>G NP_899634.1:n.114-2151C>G
NM_007238.5:c.114-2151C>G MANE Select NP_009169.3:n.114-2151C>G
NM_183397.3:c.114-2151C>G NP_899634.1:n.114-2151C>G
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