Canonical Allele Identifier: CA252769
Gene: ALG12 HGNC NCBI

Linked Data

ClinVar Variation Id: 3433
ClinVar RCV Id: RCV000003602
dbSNP Id: rs28942090
MyVariant Identifiers: chr22:g.50304127A>C (hg19) chr22:g.49910479A>C (hg38)
PubMed: PMID:11983712 PMID:12736397
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.49910479A>C , CM000684.2:g.49910479A>C GRCh38
NC_000022.10:g.50304127A>C , CM000684.1:g.50304127A>C GRCh37
NC_000022.9:g.48690131A>C NCBI36
NG_008927.1:g.12980T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000330817.11:c.424T>G MANE Select ENSP00000333813.5:p.Phe142Val
ENST00000330817.10:c.424T>G ENSP00000333813.5:p.Phe142Val
NM_024105.3:c.424T>G NP_077010.1:p.Phe142Val
XM_011530369.1:c.424T>G XP_011528671.1:p.Phe142Val
XM_011530370.1:c.424T>G XP_011528672.1:p.Phe142Val
XM_011530371.1:c.424T>G XP_011528673.1:p.Phe142Val
XM_011530371.2:c.424T>G XP_011528673.1:p.Phe142Val
XM_017028936.1:c.424T>G XP_016884425.1:p.Phe142Val
XM_017028937.1:c.424T>G XP_016884426.1:p.Phe142Val
NM_024105.4:c.424T>G MANE Select NP_077010.1:p.Phe142Val
Search 100 bp 5'
Search 100 bp 3'