Canonical Allele Identifier: CA6422694

Gene: EMG1

Linked Data

• dbSNP Id: rs370810704
• ExAC: 12:7083617 A / G
• gnomAD v2: 12-7083617-A-G
• gnomAD v3: 12-6974455-A-G
• gnomAD v4: 12-6974455-A-G
• MyVariant Identifiers: chr12:g.7083617A>G (hg19) ; chr12:g.6974455A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974455A>G , CM000674.2:g.6974455A>G	GRCh38
NC_000012.11:g.7083617A>G , CM000674.1:g.7083617A>G	GRCh37
NC_000012.10:g.6953878A>G	NCBI36
NG_021408.1:g.8675A>G
NG_021408.2:g.8675A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000599672.6:c.270+15A>G MANE Select	ENSP00000470560.1:n.270+15A>G
ENST00000261406.7:c.252+15A>G	ENSP00000476966.2:n.252+15A>G
ENST00000539196.2:c.133+15A>G
ENST00000599672.5:c.270+15A>G	ENSP00000470560.1:n.270+15A>G
ENST00000607161.5:c.273+15A>G	ENSP00000480420.1:n.273+15A>G
ENST00000611981.1:n.281+15A>G
ENST00000620255.1:n.274A>G
NM_006331.7:c.270+15A>G	NP_006322.4:n.270+15A>G
XM_011520907.1:c.270+15A>G	XP_011519209.1:n.270+15A>G
NM_001320049.1:c.270+15A>G	NP_001306978.1:n.270+15A>G
NR_135131.1:n.413+15A>G
NM_006331.8:c.270+15A>G MANE Select	NP_006322.4:n.270+15A>G
NM_001320049.2:c.270+15A>G	NP_001306978.1:n.270+15A>G
NR_135131.2:n.281+15A>G