Canonical Allele Identifier: CA603487398

Gene: EMG1

Linked Data

• dbSNP Id: rs1555152652
• gnomAD v2: 12-7083406-G-C
• gnomAD v3: 12-6974244-G-C
• gnomAD v4: 12-6974244-G-C
• MyVariant Identifiers: chr12:g.7083406G>C (hg19) ; chr12:g.6974244G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974244G>C , CM000674.2:g.6974244G>C	GRCh38
NC_000012.11:g.7083406G>C , CM000674.1:g.7083406G>C	GRCh37
NC_000012.10:g.6953667G>C	NCBI36
NG_021408.1:g.8464G>C
NG_021408.2:g.8464G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.169-95G>C MANE Select	ENSP00000470560.1:n.169-95G>C
ENST00000261406.7:c.151-95G>C	ENSP00000476966.2:n.151-95G>C
ENST00000539196.2:c.32-95G>C
ENST00000599672.5:c.169-95G>C	ENSP00000470560.1:n.169-95G>C
ENST00000607161.5:c.172-95G>C	ENSP00000480420.1:n.172-95G>C
ENST00000611981.1:n.180-95G>C
ENST00000620255.1:n.158-95G>C
NM_006331.7:c.169-95G>C	NP_006322.4:n.169-95G>C
XM_011520907.1:c.169-95G>C	XP_011519209.1:n.169-95G>C
NM_001320049.1:c.169-95G>C	NP_001306978.1:n.169-95G>C
NR_135131.1:n.312-95G>C
NM_006331.8:c.169-95G>C MANE Select	NP_006322.4:n.169-95G>C
NM_001320049.2:c.169-95G>C	NP_001306978.1:n.169-95G>C
NR_135131.2:n.180-95G>C