Canonical Allele Identifier: CA383682475

Gene: EMG1

Linked Data

• MyVariant Identifiers: chr12:g.7083505G>T (hg19) ; chr12:g.6974343G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974343G>T , CM000674.2:g.6974343G>T	GRCh38
NC_000012.11:g.7083505G>T , CM000674.1:g.7083505G>T	GRCh37
NC_000012.10:g.6953766G>T	NCBI36
NG_021408.1:g.8563G>T
NG_021408.2:g.8563G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000599672.6:c.173G>T MANE Select	ENSP00000470560.1:p.Gly58Val
ENST00000261406.7:c.155G>T	ENSP00000476966.2:p.Gly52Val
ENST00000539196.2:c.36G>T
ENST00000599672.5:c.173G>T	ENSP00000470560.1:p.Gly58Val
ENST00000607161.5:c.176G>T	ENSP00000480420.1:p.Gly59Val
ENST00000611981.1:n.184G>T
ENST00000620255.1:n.162G>T
NM_006331.7:c.173G>T	NP_006322.4:p.Gly58Val
XM_011520907.1:c.173G>T	XP_011519209.1:p.Gly58Val
NM_001320049.1:c.173G>T	NP_001306978.1:p.Gly58Val
NR_135131.1:n.316G>T
NM_006331.8:c.173G>T MANE Select	NP_006322.4:p.Gly58Val
NM_001320049.2:c.173G>T	NP_001306978.1:p.Gly58Val
NR_135131.2:n.184G>T