Canonical Allele Identifier: CA232443780

Gene: EMG1

Linked Data

• dbSNP Id: rs1015986312
• gnomAD v3: 12-6974263-G-T
• gnomAD v4: 12-6974263-G-T
• MyVariant Identifiers: chr12:g.6974263G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974263G>T , CM000674.2:g.6974263G>T	GRCh38
NC_000012.11:g.7083425G>T , CM000674.1:g.7083425G>T	GRCh37
NC_000012.10:g.6953686G>T	NCBI36
NG_021408.1:g.8483G>T
NG_021408.2:g.8483G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.169-76G>T MANE Select	ENSP00000470560.1:n.169-76G>T
ENST00000261406.7:c.151-76G>T	ENSP00000476966.2:n.151-76G>T
ENST00000539196.2:c.32-76G>T
ENST00000599672.5:c.169-76G>T	ENSP00000470560.1:n.169-76G>T
ENST00000607161.5:c.172-76G>T	ENSP00000480420.1:n.172-76G>T
ENST00000611981.1:n.180-76G>T
ENST00000620255.1:n.158-76G>T
NM_006331.7:c.169-76G>T	NP_006322.4:n.169-76G>T
XM_011520907.1:c.169-76G>T	XP_011519209.1:n.169-76G>T
NM_001320049.1:c.169-76G>T	NP_001306978.1:n.169-76G>T
NR_135131.1:n.312-76G>T
NM_006331.8:c.169-76G>T MANE Select	NP_006322.4:n.169-76G>T
NM_001320049.2:c.169-76G>T	NP_001306978.1:n.169-76G>T
NR_135131.2:n.180-76G>T