Canonical Allele Identifier: CA691360531

Gene: EMG1

Linked Data

• dbSNP Id: rs1415044755
• gnomAD v3: 12-6974185-T-G
• gnomAD v4: 12-6974185-T-G
• MyVariant Identifiers: chr12:g.6974185T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974185T>G , CM000674.2:g.6974185T>G	GRCh38
NC_000012.11:g.7083347T>G , CM000674.1:g.7083347T>G	GRCh37
NC_000012.10:g.6953608T>G	NCBI36
NG_021408.1:g.8405T>G
NG_021408.2:g.8405T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.169-154T>G MANE Select	ENSP00000470560.1:n.169-154T>G
ENST00000261406.7:c.151-154T>G	ENSP00000476966.2:n.151-154T>G
ENST00000539196.2:c.32-154T>G
ENST00000599672.5:c.169-154T>G	ENSP00000470560.1:n.169-154T>G
ENST00000607161.5:c.172-154T>G	ENSP00000480420.1:n.172-154T>G
ENST00000611981.1:n.180-154T>G
ENST00000620255.1:n.158-154T>G
NM_006331.7:c.169-154T>G	NP_006322.4:n.169-154T>G
XM_011520907.1:c.169-154T>G	XP_011519209.1:n.169-154T>G
NM_001320049.1:c.169-154T>G	NP_001306978.1:n.169-154T>G
NR_135131.1:n.312-154T>G
NM_006331.8:c.169-154T>G MANE Select	NP_006322.4:n.169-154T>G
NM_001320049.2:c.169-154T>G	NP_001306978.1:n.169-154T>G
NR_135131.2:n.180-154T>G