Canonical Allele Identifier: CA603487431

Gene: EMG1

Linked Data

• dbSNP Id: rs1345466270
• gnomAD v2: 12-7083642-G-A
• gnomAD v3: 12-6974480-G-A
• gnomAD v4: 12-6974480-G-A
• MyVariant Identifiers: chr12:g.7083642G>A (hg19) ; chr12:g.6974480G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974480G>A , CM000674.2:g.6974480G>A	GRCh38
NC_000012.11:g.7083642G>A , CM000674.1:g.7083642G>A	GRCh37
NC_000012.10:g.6953903G>A	NCBI36
NG_021408.1:g.8700G>A
NG_021408.2:g.8700G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.270+40G>A MANE Select	ENSP00000470560.1:n.270+40G>A
ENST00000261406.7:c.252+40G>A	ENSP00000476966.2:n.252+40G>A
ENST00000539196.2:c.133+40G>A
ENST00000599672.5:c.270+40G>A	ENSP00000470560.1:n.270+40G>A
ENST00000607161.5:c.273+40G>A	ENSP00000480420.1:n.273+40G>A
ENST00000611981.1:n.281+40G>A
ENST00000620255.1:n.299G>A
NM_006331.7:c.270+40G>A	NP_006322.4:n.270+40G>A
XM_011520907.1:c.270+40G>A	XP_011519209.1:n.270+40G>A
NM_001320049.1:c.270+40G>A	NP_001306978.1:n.270+40G>A
NR_135131.1:n.413+40G>A
NM_006331.8:c.270+40G>A MANE Select	NP_006322.4:n.270+40G>A
NM_001320049.2:c.270+40G>A	NP_001306978.1:n.270+40G>A
NR_135131.2:n.281+40G>A