Canonical Allele Identifier: CA5312268
Gene: MYMK HGNC NCBI

Linked Data

ClinVar Variation Id: 430839
ClinVar RCV Id: RCV000495954 RCV001575718 RCV003147484 RCV003424047
dbSNP Id: rs137868995
ExAC: 9:136384124 G / T
gnomAD v2: 9-136384124-G-T
gnomAD v3: 9-133519002-G-T
gnomAD v4: 9-133519002-G-T
MyVariant Identifiers: chr9:g.136384124G>T (hg19) chr9:g.133519002G>T (hg38)
PubMed: PMID:7131178 PMID:28681861
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133519002G>T , CM000671.2:g.133519002G>T GRCh38
NC_000009.11:g.136384124G>T , CM000671.1:g.136384124G>T GRCh37
NC_000009.10:g.135373945G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000339996.4:c.271C>A MANE Select ENSP00000419712.2:p.Pro91Thr
ENST00000339996.3:c.271C>A ENSP00000419712.2:p.Pro91Thr
ENST00000413714.1:n.326C>A
NM_001080483.2:c.271C>A NP_001073952.1:p.Pro91Thr
XM_011518673.1:c.196C>A XP_011516975.1:p.Pro66Thr
NM_001080483.3:c.271C>A MANE Select NP_001073952.1:p.Pro91Thr
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