Canonical Allele Identifier: CA383682979

Gene: EMG1

Linked Data

• dbSNP Id: rs1555152726
• gnomAD v2: 12-7083579-G-A
• gnomAD v4: 12-6974417-G-A
• MyVariant Identifiers: chr12:g.7083579G>A (hg19) ; chr12:g.6974417G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974417G>A , CM000674.2:g.6974417G>A	GRCh38
NC_000012.11:g.7083579G>A , CM000674.1:g.7083579G>A	GRCh37
NC_000012.10:g.6953840G>A	NCBI36
NG_021408.1:g.8637G>A
NG_021408.2:g.8637G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.247G>A MANE Select	ENSP00000470560.1:p.Ala83Thr
ENST00000261406.7:c.229G>A	ENSP00000476966.2:p.Ala77Thr
ENST00000539196.2:c.110G>A
ENST00000599672.5:c.247G>A	ENSP00000470560.1:p.Ala83Thr
ENST00000607161.5:c.250G>A	ENSP00000480420.1:p.Ala84Thr
ENST00000611981.1:n.258G>A
ENST00000620255.1:n.236G>A
NM_006331.7:c.247G>A	NP_006322.4:p.Ala83Thr
XM_011520907.1:c.247G>A	XP_011519209.1:p.Ala83Thr
NM_001320049.1:c.247G>A	NP_001306978.1:p.Ala83Thr
NR_135131.1:n.390G>A
NM_006331.8:c.247G>A MANE Select	NP_006322.4:p.Ala83Thr
NM_001320049.2:c.247G>A	NP_001306978.1:p.Ala83Thr
NR_135131.2:n.258G>A