Canonical Allele Identifier: CA12282036
Gene: ARMT1 HGNC NCBI

Linked Data

dbSNP Id: rs963193
gnomAD v2: 6-151789355-T-G
gnomAD v3: 6-151468220-T-G
gnomAD v4: 6-151468220-T-G
MyVariant Identifiers: chr6:g.151789355T>G (hg19) chr6:g.151468220T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.151468220T>G , CM000668.2:g.151468220T>G GRCh38
NC_000006.11:g.151789355T>G , CM000668.1:g.151789355T>G GRCh37
NC_000006.10:g.151831048T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000367294.4:c.559-123T>G MANE Select ENSP00000356263.3:n.559-123T>G
ENST00000367294.3:c.559-123T>G ENSP00000356263.3:n.559-123T>G
ENST00000494826.1:c.*282-123T>G ENSP00000435882.1:n.*282-123T>G
ENST00000545879.5:c.202-123T>G ENSP00000444121.1:n.202-123T>G
NM_001286562.1:c.202-123T>G NP_001273491.1:n.202-123T>G
NM_024573.2:c.559-123T>G NP_078849.1:n.559-123T>G
NM_024573.3:c.559-123T>G MANE Select NP_078849.1:n.559-123T>G
NM_001286562.2:c.202-123T>G NP_001273491.1:n.202-123T>G
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