Canonical Allele Identifier: CA478521211

Gene: EMG1

Linked Data

• MyVariant Identifiers: chr12:g.7083575G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974413G>T , CM000674.2:g.6974413G>T	GRCh38
NC_000012.11:g.7083575G>T , CM000674.1:g.7083575G>T	GRCh37
NC_000012.10:g.6953836G>T	NCBI36
NG_021408.1:g.8633G>T
NG_021408.2:g.8633G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.243G>T MANE Select	ENSP00000470560.1:p.Gly81=
ENST00000261406.7:c.225G>T	ENSP00000476966.2:p.Gly75=
ENST00000539196.2:c.106G>T
ENST00000599672.5:c.243G>T	ENSP00000470560.1:p.Gly81=
ENST00000607161.5:c.246G>T	ENSP00000480420.1:p.Gly82=
ENST00000611981.1:n.254G>T
ENST00000620255.1:n.232G>T
NM_006331.7:c.243G>T	NP_006322.4:p.Gly81=
XM_011520907.1:c.243G>T	XP_011519209.1:p.Gly81=
NM_001320049.1:c.243G>T	NP_001306978.1:p.Gly81=
NR_135131.1:n.386G>T
NM_006331.8:c.243G>T MANE Select	NP_006322.4:p.Gly81=
NM_001320049.2:c.243G>T	NP_001306978.1:p.Gly81=
NR_135131.2:n.254G>T