Canonical Allele Identifier: CA375395840
Gene: MYMK HGNC NCBI

Linked Data

ClinVar Variation Id: 430842
ClinVar RCV Id: RCV000495944
dbSNP Id: rs1131692248
MyVariant Identifiers: chr9:g.136389965A>T (hg19) chr9:g.133524843A>T (hg38)
PubMed: PMID:28681861
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133524843A>T , CM000671.2:g.133524843A>T GRCh38
NC_000009.11:g.136389965A>T , CM000671.1:g.136389965A>T GRCh37
NC_000009.10:g.135379786A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000339996.4:c.2T>A MANE Select ENSP00000419712.2:p.Met1Lys
ENST00000339996.3:c.2T>A ENSP00000419712.2:p.Met1Lys
ENST00000413714.1:n.190+3580T>A
NM_001080483.2:c.2T>A NP_001073952.1:p.Met1Lys
XM_011518673.1:c.60+3580T>A XP_011516975.1:n.60+3580T>A
NM_001080483.3:c.2T>A MANE Select NP_001073952.1:p.Met1Lys
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