Canonical Allele Identifier: CA6422672

Gene: EMG1

Linked Data

• dbSNP Id: rs377272519
• ExAC: 12:7083547 T / C
• gnomAD v2: 12-7083547-T-C
• gnomAD v3: 12-6974385-T-C
• gnomAD v4: 12-6974385-T-C
• MyVariant Identifiers: chr12:g.7083547T>C (hg19) ; chr12:g.6974385T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974385T>C , CM000674.2:g.6974385T>C	GRCh38
NC_000012.11:g.7083547T>C , CM000674.1:g.7083547T>C	GRCh37
NC_000012.10:g.6953808T>C	NCBI36
NG_021408.1:g.8605T>C
NG_021408.2:g.8605T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.215T>C MANE Select	ENSP00000470560.1:p.Ile72Thr
ENST00000261406.7:c.197T>C	ENSP00000476966.2:p.Ile66Thr
ENST00000539196.2:c.78T>C
ENST00000599672.5:c.215T>C	ENSP00000470560.1:p.Ile72Thr
ENST00000607161.5:c.218T>C	ENSP00000480420.1:p.Ile73Thr
ENST00000611981.1:n.226T>C
ENST00000620255.1:n.204T>C
NM_006331.7:c.215T>C	NP_006322.4:p.Ile72Thr
XM_011520907.1:c.215T>C	XP_011519209.1:p.Ile72Thr
NM_001320049.1:c.215T>C	NP_001306978.1:p.Ile72Thr
NR_135131.1:n.358T>C
NM_006331.8:c.215T>C MANE Select	NP_006322.4:p.Ile72Thr
NM_001320049.2:c.215T>C	NP_001306978.1:p.Ile72Thr
NR_135131.2:n.226T>C