Canonical Allele Identifier: CA2575063774

Gene: EMG1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974484G>T , CM000674.2:g.6974484G>T	GRCh38
NC_000012.11:g.7083646G>T , CM000674.1:g.7083646G>T	GRCh37
NC_000012.10:g.6953907G>T	NCBI36
NG_021408.1:g.8704G>T
NG_021408.2:g.8704G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.270+44G>T MANE Select	ENSP00000470560.1:n.270+44G>T
ENST00000261406.7:c.252+44G>T	ENSP00000476966.2:n.252+44G>T
ENST00000539196.2:c.133+44G>T
ENST00000599672.5:c.270+44G>T	ENSP00000470560.1:n.270+44G>T
ENST00000607161.5:c.273+44G>T	ENSP00000480420.1:n.273+44G>T
ENST00000611981.1:n.281+44G>T
ENST00000620255.1:n.303G>T
NM_006331.7:c.270+44G>T	NP_006322.4:n.270+44G>T
XM_011520907.1:c.270+44G>T	XP_011519209.1:n.270+44G>T
NM_001320049.1:c.270+44G>T	NP_001306978.1:n.270+44G>T
NR_135131.1:n.413+44G>T
NM_006331.8:c.270+44G>T MANE Select	NP_006322.4:n.270+44G>T
NM_001320049.2:c.270+44G>T	NP_001306978.1:n.270+44G>T
NR_135131.2:n.281+44G>T