Canonical Allele Identifier: CA5312268

Gene: MYMK

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

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