Canonical Allele Identifier: CA383683170

Gene: EMG1

Linked Data

• MyVariant Identifiers: chr12:g.7083600C>A (hg19) ; chr12:g.6974438C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974438C>A , CM000674.2:g.6974438C>A	GRCh38
NC_000012.11:g.7083600C>A , CM000674.1:g.7083600C>A	GRCh37
NC_000012.10:g.6953861C>A	NCBI36
NG_021408.1:g.8658C>A
NG_021408.2:g.8658C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000599672.6:c.268C>A MANE Select	ENSP00000470560.1:p.Gln90Lys
ENST00000261406.7:c.250C>A	ENSP00000476966.2:p.Gln84Lys
ENST00000539196.2:c.131C>A
ENST00000599672.5:c.268C>A	ENSP00000470560.1:p.Gln90Lys
ENST00000607161.5:c.271C>A	ENSP00000480420.1:p.Gln91Lys
ENST00000611981.1:n.279C>A
ENST00000620255.1:n.257C>A
NM_006331.7:c.268C>A	NP_006322.4:p.Gln90Lys
XM_011520907.1:c.268C>A	XP_011519209.1:p.Gln90Lys
NM_001320049.1:c.268C>A	NP_001306978.1:p.Gln90Lys
NR_135131.1:n.411C>A
NM_006331.8:c.268C>A MANE Select	NP_006322.4:p.Gln90Lys
NM_001320049.2:c.268C>A	NP_001306978.1:p.Gln90Lys
NR_135131.2:n.279C>A