Canonical Allele Identifier: CA820835182

Gene: ARMT1

Linked Data

• dbSNP Id: rs1303793730
• gnomAD v3: 6-151468243-T-C
• gnomAD v4: 6-151468243-T-C
• MyVariant Identifiers: chr6:g.151789378T>C (hg19) ; chr6:g.151468243T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.151468243T>C , CM000668.2:g.151468243T>C	GRCh38
NC_000006.11:g.151789378T>C , CM000668.1:g.151789378T>C	GRCh37
NC_000006.10:g.151831071T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367294.4:c.559-100T>C MANE Select	ENSP00000356263.3:n.559-100T>C
ENST00000367294.3:c.559-100T>C	ENSP00000356263.3:n.559-100T>C
ENST00000494826.1:c.*282-100T>C	ENSP00000435882.1:n.*282-100T>C
ENST00000545879.5:c.202-100T>C	ENSP00000444121.1:n.202-100T>C
NM_001286562.1:c.202-100T>C	NP_001273491.1:n.202-100T>C
NM_024573.2:c.559-100T>C	NP_078849.1:n.559-100T>C
NM_024573.3:c.559-100T>C MANE Select	NP_078849.1:n.559-100T>C
NM_001286562.2:c.202-100T>C	NP_001273491.1:n.202-100T>C