Canonical Allele Identifier: CA2575063764

Gene: EMG1

Linked Data

• gnomAD v4: 12-6974333-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974333C>G , CM000674.2:g.6974333C>G	GRCh38
NC_000012.11:g.7083495C>G , CM000674.1:g.7083495C>G	GRCh37
NC_000012.10:g.6953756C>G	NCBI36
NG_021408.1:g.8553C>G
NG_021408.2:g.8553C>G

Transcript Alleles

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