Canonical Allele Identifier: CA2575063775

Gene: EMG1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974492T>C , CM000674.2:g.6974492T>C	GRCh38
NC_000012.11:g.7083654T>C , CM000674.1:g.7083654T>C	GRCh37
NC_000012.10:g.6953915T>C	NCBI36
NG_021408.1:g.8712T>C
NG_021408.2:g.8712T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.270+52T>C MANE Select	ENSP00000470560.1:n.270+52T>C
ENST00000261406.7:c.252+52T>C	ENSP00000476966.2:n.252+52T>C
ENST00000539196.2:c.133+52T>C
ENST00000599672.5:c.270+52T>C	ENSP00000470560.1:n.270+52T>C
ENST00000607161.5:c.273+52T>C	ENSP00000480420.1:n.273+52T>C
ENST00000611981.1:n.281+52T>C
ENST00000620255.1:n.311T>C
NM_006331.7:c.270+52T>C	NP_006322.4:n.270+52T>C
XM_011520907.1:c.270+52T>C	XP_011519209.1:n.270+52T>C
NM_001320049.1:c.270+52T>C	NP_001306978.1:n.270+52T>C
NR_135131.1:n.413+52T>C
NM_006331.8:c.270+52T>C MANE Select	NP_006322.4:n.270+52T>C
NM_001320049.2:c.270+52T>C	NP_001306978.1:n.270+52T>C
NR_135131.2:n.281+52T>C