Canonical Allele Identifier: CA691360529

Gene: EMG1

Linked Data

• dbSNP Id: rs1165036485
• gnomAD v3: 12-6974182-T-C
• gnomAD v4: 12-6974182-T-C
• MyVariant Identifiers: chr12:g.6974182T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974182T>C , CM000674.2:g.6974182T>C	GRCh38
NC_000012.11:g.7083344T>C , CM000674.1:g.7083344T>C	GRCh37
NC_000012.10:g.6953605T>C	NCBI36
NG_021408.1:g.8402T>C
NG_021408.2:g.8402T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.169-157T>C MANE Select	ENSP00000470560.1:n.169-157T>C
ENST00000261406.7:c.151-157T>C	ENSP00000476966.2:n.151-157T>C
ENST00000539196.2:c.32-157T>C
ENST00000599672.5:c.169-157T>C	ENSP00000470560.1:n.169-157T>C
ENST00000607161.5:c.172-157T>C	ENSP00000480420.1:n.172-157T>C
ENST00000611981.1:n.180-157T>C
ENST00000620255.1:n.158-157T>C
NM_006331.7:c.169-157T>C	NP_006322.4:n.169-157T>C
XM_011520907.1:c.169-157T>C	XP_011519209.1:n.169-157T>C
NM_001320049.1:c.169-157T>C	NP_001306978.1:n.169-157T>C
NR_135131.1:n.312-157T>C
NM_006331.8:c.169-157T>C MANE Select	NP_006322.4:n.169-157T>C
NM_001320049.2:c.169-157T>C	NP_001306978.1:n.169-157T>C
NR_135131.2:n.180-157T>C