Canonical Allele Identifier: CA6422662

Gene: EMG1

Linked Data

• dbSNP Id: rs782339755
• ExAC: 12:7083514 A / G
• gnomAD v2: 12-7083514-A-G
• MyVariant Identifiers: chr12:g.7083514A>G (hg19) ; chr12:g.6974352A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974352A>G , CM000674.2:g.6974352A>G	GRCh38
NC_000012.11:g.7083514A>G , CM000674.1:g.7083514A>G	GRCh37
NC_000012.10:g.6953775A>G	NCBI36
NG_021408.1:g.8572A>G
NG_021408.2:g.8572A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000599672.6:c.182A>G MANE Select	ENSP00000470560.1:p.Tyr61Cys
ENST00000261406.7:c.164A>G	ENSP00000476966.2:p.Tyr55Cys
ENST00000539196.2:c.45A>G
ENST00000599672.5:c.182A>G	ENSP00000470560.1:p.Tyr61Cys
ENST00000607161.5:c.185A>G	ENSP00000480420.1:p.Tyr62Cys
ENST00000611981.1:n.193A>G
ENST00000620255.1:n.171A>G
NM_006331.7:c.182A>G	NP_006322.4:p.Tyr61Cys
XM_011520907.1:c.182A>G	XP_011519209.1:p.Tyr61Cys
NM_001320049.1:c.182A>G	NP_001306978.1:p.Tyr61Cys
NR_135131.1:n.325A>G
NM_006331.8:c.182A>G MANE Select	NP_006322.4:p.Tyr61Cys
NM_001320049.2:c.182A>G	NP_001306978.1:p.Tyr61Cys
NR_135131.2:n.193A>G