Canonical Allele Identifier: CA478521140

Gene: EMG1

Linked Data

• dbSNP Id: rs910414704
• gnomAD v2: 12-7083512-A-C
• gnomAD v4: 12-6974350-A-C
• MyVariant Identifiers: chr12:g.7083512A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974350A>C , CM000674.2:g.6974350A>C	GRCh38
NC_000012.11:g.7083512A>C , CM000674.1:g.7083512A>C	GRCh37
NC_000012.10:g.6953773A>C	NCBI36
NG_021408.1:g.8570A>C
NG_021408.2:g.8570A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000599672.6:c.180A>C MANE Select	ENSP00000470560.1:p.Thr60=
ENST00000261406.7:c.162A>C	ENSP00000476966.2:p.Thr54=
ENST00000539196.2:c.43A>C
ENST00000599672.5:c.180A>C	ENSP00000470560.1:p.Thr60=
ENST00000607161.5:c.183A>C	ENSP00000480420.1:p.Thr61=
ENST00000611981.1:n.191A>C
ENST00000620255.1:n.169A>C
NM_006331.7:c.180A>C	NP_006322.4:p.Thr60=
XM_011520907.1:c.180A>C	XP_011519209.1:p.Thr60=
NM_001320049.1:c.180A>C	NP_001306978.1:p.Thr60=
NR_135131.1:n.323A>C
NM_006331.8:c.180A>C MANE Select	NP_006322.4:p.Thr60=
NM_001320049.2:c.180A>C	NP_001306978.1:p.Thr60=
NR_135131.2:n.191A>C