Canonical Allele Identifier: CA6422676

Gene: EMG1

Linked Data

• dbSNP Id: rs782452445
• ExAC: 12:7083560 T / C
• gnomAD v2: 12-7083560-T-C
• gnomAD v3: 12-6974398-T-C
• gnomAD v4: 12-6974398-T-C
• MyVariant Identifiers: chr12:g.7083560T>C (hg19) ; chr12:g.6974398T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974398T>C , CM000674.2:g.6974398T>C	GRCh38
NC_000012.11:g.7083560T>C , CM000674.1:g.7083560T>C	GRCh37
NC_000012.10:g.6953821T>C	NCBI36
NG_021408.1:g.8618T>C
NG_021408.2:g.8618T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.228T>C MANE Select	ENSP00000470560.1:p.Asn76=
ENST00000261406.7:c.210T>C	ENSP00000476966.2:p.Asn70=
ENST00000539196.2:c.91T>C
ENST00000599672.5:c.228T>C	ENSP00000470560.1:p.Asn76=
ENST00000607161.5:c.231T>C	ENSP00000480420.1:p.Asn77=
ENST00000611981.1:n.239T>C
ENST00000620255.1:n.217T>C
NM_006331.7:c.228T>C	NP_006322.4:p.Asn76=
XM_011520907.1:c.228T>C	XP_011519209.1:p.Asn76=
NM_001320049.1:c.228T>C	NP_001306978.1:p.Asn76=
NR_135131.1:n.371T>C
NM_006331.8:c.228T>C MANE Select	NP_006322.4:p.Asn76=
NM_001320049.2:c.228T>C	NP_001306978.1:p.Asn76=
NR_135131.2:n.239T>C