Canonical Allele Identifier: CA6422715

Gene: EMG1

Linked Data

• dbSNP Id: rs782169084
• ExAC: 12:7083724 T / G
• gnomAD v2: 12-7083724-T-G
• gnomAD v3: 12-6974562-T-G
• gnomAD v4: 12-6974562-T-G
• MyVariant Identifiers: chr12:g.7083724T>G (hg19) ; chr12:g.6974562T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974562T>G , CM000674.2:g.6974562T>G	GRCh38
NC_000012.11:g.7083724T>G , CM000674.1:g.7083724T>G	GRCh37
NC_000012.10:g.6953985T>G	NCBI36
NG_021408.1:g.8782T>G
NG_021408.2:g.8782T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.281T>G MANE Select	ENSP00000470560.1:p.Met94Arg
ENST00000261406.7:c.263T>G	ENSP00000476966.2:p.Met88Arg
ENST00000539196.2:c.144T>G
ENST00000599672.5:c.281T>G	ENSP00000470560.1:p.Met94Arg
ENST00000607161.5:c.284T>G	ENSP00000480420.1:p.Met95Arg
ENST00000611981.1:n.292T>G
ENST00000620255.1:n.381T>G
NM_006331.7:c.281T>G	NP_006322.4:p.Met94Arg
XM_011520907.1:c.281T>G	XP_011519209.1:p.Met94Arg
NM_001320049.1:c.281T>G	NP_001306978.1:p.Met94Arg
NR_135131.1:n.424T>G
NM_006331.8:c.281T>G MANE Select	NP_006322.4:p.Met94Arg
NM_001320049.2:c.281T>G	NP_001306978.1:p.Met94Arg
NR_135131.2:n.292T>G