Canonical Allele Identifier: CA6422701

Gene: EMG1

Linked Data

• dbSNP Id: rs1209237292
• ExAC: 12:7083640 C / T
• gnomAD v2: 12-7083640-C-T
• gnomAD v3: 12-6974478-C-T
• gnomAD v4: 12-6974478-C-T
• MyVariant Identifiers: chr12:g.7083640C>T (hg19) ; chr12:g.7083640_7083642delinsTTG (hg19) ; chr12:g.6974478C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974478C>T , CM000674.2:g.6974478C>T	GRCh38
NC_000012.11:g.7083640C>T , CM000674.1:g.7083640C>T	GRCh37
NC_000012.10:g.6953901C>T	NCBI36
NG_021408.1:g.8698C>T
NG_021408.2:g.8698C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.270+38C>T MANE Select	ENSP00000470560.1:n.270+38C>T
ENST00000261406.7:c.252+38C>T	ENSP00000476966.2:n.252+38C>T
ENST00000539196.2:c.133+38C>T
ENST00000599672.5:c.270+38C>T	ENSP00000470560.1:n.270+38C>T
ENST00000607161.5:c.273+38C>T	ENSP00000480420.1:n.273+38C>T
ENST00000611981.1:n.281+38C>T
ENST00000620255.1:n.297C>T
NM_006331.7:c.270+38C>T	NP_006322.4:n.270+38C>T
XM_011520907.1:c.270+38C>T	XP_011519209.1:n.270+38C>T
NM_001320049.1:c.270+38C>T	NP_001306978.1:n.270+38C>T
NR_135131.1:n.413+38C>T
NM_006331.8:c.270+38C>T MANE Select	NP_006322.4:n.270+38C>T
NM_001320049.2:c.270+38C>T	NP_001306978.1:n.270+38C>T
NR_135131.2:n.281+38C>T