Canonical Allele Identifier: CA2014342473

Gene: EMG1

Linked Data

• dbSNP Id: rs1946365543
• gnomAD v4: 12-6974224-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974224C>G , CM000674.2:g.6974224C>G	GRCh38
NC_000012.11:g.7083386C>G , CM000674.1:g.7083386C>G	GRCh37
NC_000012.10:g.6953647C>G	NCBI36
NG_021408.1:g.8444C>G
NG_021408.2:g.8444C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.169-115C>G MANE Select	ENSP00000470560.1:n.169-115C>G
ENST00000261406.7:c.151-115C>G	ENSP00000476966.2:n.151-115C>G
ENST00000539196.2:c.32-115C>G
ENST00000599672.5:c.169-115C>G	ENSP00000470560.1:n.169-115C>G
ENST00000607161.5:c.172-115C>G	ENSP00000480420.1:n.172-115C>G
ENST00000611981.1:n.180-115C>G
ENST00000620255.1:n.158-115C>G
NM_006331.7:c.169-115C>G	NP_006322.4:n.169-115C>G
XM_011520907.1:c.169-115C>G	XP_011519209.1:n.169-115C>G
NM_001320049.1:c.169-115C>G	NP_001306978.1:n.169-115C>G
NR_135131.1:n.312-115C>G
NM_006331.8:c.169-115C>G MANE Select	NP_006322.4:n.169-115C>G
NM_001320049.2:c.169-115C>G	NP_001306978.1:n.169-115C>G
NR_135131.2:n.180-115C>G