Canonical Allele Identifier: CA383682915

Gene: EMG1

Linked Data

• MyVariant Identifiers: chr12:g.7083568A>T (hg19) ; chr12:g.6974406A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974406A>T , CM000674.2:g.6974406A>T	GRCh38
NC_000012.11:g.7083568A>T , CM000674.1:g.7083568A>T	GRCh37
NC_000012.10:g.6953829A>T	NCBI36
NG_021408.1:g.8626A>T
NG_021408.2:g.8626A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.236A>T MANE Select	ENSP00000470560.1:p.Asp79Val
ENST00000261406.7:c.218A>T	ENSP00000476966.2:p.Asp73Val
ENST00000539196.2:c.99A>T
ENST00000599672.5:c.236A>T	ENSP00000470560.1:p.Asp79Val
ENST00000607161.5:c.239A>T	ENSP00000480420.1:p.Asp80Val
ENST00000611981.1:n.247A>T
ENST00000620255.1:n.225A>T
NM_006331.7:c.236A>T	NP_006322.4:p.Asp79Val
XM_011520907.1:c.236A>T	XP_011519209.1:p.Asp79Val
NM_001320049.1:c.236A>T	NP_001306978.1:p.Asp79Val
NR_135131.1:n.379A>T
NM_006331.8:c.236A>T MANE Select	NP_006322.4:p.Asp79Val
NM_001320049.2:c.236A>T	NP_001306978.1:p.Asp79Val
NR_135131.2:n.247A>T