Canonical Allele Identifier: CA603487427

Gene: EMG1

Linked Data

• dbSNP Id: rs1565594165
• gnomAD v2: 12-7083627-A-G
• gnomAD v4: 12-6974465-A-G
• MyVariant Identifiers: chr12:g.7083627_7083628delinsGC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974465A>G , CM000674.2:g.6974465A>G	GRCh38
NC_000012.11:g.7083627A>G , CM000674.1:g.7083627A>G	GRCh37
NC_000012.10:g.6953888A>G	NCBI36
NG_021408.1:g.8685A>G
NG_021408.2:g.8685A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.270+25A>G MANE Select	ENSP00000470560.1:n.270+25A>G
ENST00000261406.7:c.252+25A>G	ENSP00000476966.2:n.252+25A>G
ENST00000539196.2:c.133+25A>G
ENST00000599672.5:c.270+25A>G	ENSP00000470560.1:n.270+25A>G
ENST00000607161.5:c.273+25A>G	ENSP00000480420.1:n.273+25A>G
ENST00000611981.1:n.281+25A>G
ENST00000620255.1:n.284A>G
NM_006331.7:c.270+25A>G	NP_006322.4:n.270+25A>G
XM_011520907.1:c.270+25A>G	XP_011519209.1:n.270+25A>G
NM_001320049.1:c.270+25A>G	NP_001306978.1:n.270+25A>G
NR_135131.1:n.413+25A>G
NM_006331.8:c.270+25A>G MANE Select	NP_006322.4:n.270+25A>G
NM_001320049.2:c.270+25A>G	NP_001306978.1:n.270+25A>G
NR_135131.2:n.281+25A>G