Canonical Allele Identifier: CA232443769

Gene: EMG1

Linked Data

• dbSNP Id: rs137975716
• gnomAD v3: 12-6974178-C-A
• gnomAD v4: 12-6974178-C-A
• MyVariant Identifiers: chr12:g.7083340C>A (hg19) ; chr12:g.6974178C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974178C>A , CM000674.2:g.6974178C>A	GRCh38
NC_000012.11:g.7083340C>A , CM000674.1:g.7083340C>A	GRCh37
NC_000012.10:g.6953601C>A	NCBI36
NG_021408.1:g.8398C>A
NG_021408.2:g.8398C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.169-161C>A MANE Select	ENSP00000470560.1:n.169-161C>A
ENST00000261406.7:c.151-161C>A	ENSP00000476966.2:n.151-161C>A
ENST00000539196.2:c.32-161C>A
ENST00000599672.5:c.169-161C>A	ENSP00000470560.1:n.169-161C>A
ENST00000607161.5:c.172-161C>A	ENSP00000480420.1:n.172-161C>A
ENST00000611981.1:n.180-161C>A
ENST00000620255.1:n.158-161C>A
NM_006331.7:c.169-161C>A	NP_006322.4:n.169-161C>A
XM_011520907.1:c.169-161C>A	XP_011519209.1:n.169-161C>A
NM_001320049.1:c.169-161C>A	NP_001306978.1:n.169-161C>A
NR_135131.1:n.312-161C>A
NM_006331.8:c.169-161C>A MANE Select	NP_006322.4:n.169-161C>A
NM_001320049.2:c.169-161C>A	NP_001306978.1:n.169-161C>A
NR_135131.2:n.180-161C>A