Canonical Allele Identifier: CA383683068

Gene: EMG1

Linked Data

• MyVariant Identifiers: chr12:g.7083590T>A (hg19) ; chr12:g.6974428T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974428T>A , CM000674.2:g.6974428T>A	GRCh38
NC_000012.11:g.7083590T>A , CM000674.1:g.7083590T>A	GRCh37
NC_000012.10:g.6953851T>A	NCBI36
NG_021408.1:g.8648T>A
NG_021408.2:g.8648T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000599672.6:c.258T>A MANE Select	ENSP00000470560.1:p.Asp86Glu
ENST00000261406.7:c.240T>A	ENSP00000476966.2:p.Asp80Glu
ENST00000539196.2:c.121T>A
ENST00000599672.5:c.258T>A	ENSP00000470560.1:p.Asp86Glu
ENST00000607161.5:c.261T>A	ENSP00000480420.1:p.Asp87Glu
ENST00000611981.1:n.269T>A
ENST00000620255.1:n.247T>A
NM_006331.7:c.258T>A	NP_006322.4:p.Asp86Glu
XM_011520907.1:c.258T>A	XP_011519209.1:p.Asp86Glu
NM_001320049.1:c.258T>A	NP_001306978.1:p.Asp86Glu
NR_135131.1:n.401T>A
NM_006331.8:c.258T>A MANE Select	NP_006322.4:p.Asp86Glu
NM_001320049.2:c.258T>A	NP_001306978.1:p.Asp86Glu
NR_135131.2:n.269T>A