Canonical Allele Identifier: CA6422716

Gene: EMG1

Linked Data

• dbSNP Id: rs781910054
• ExAC: 12:7083725 G / T
• gnomAD v2: 12-7083725-G-T
• gnomAD v4: 12-6974563-G-T
• MyVariant Identifiers: chr12:g.7083725G>T (hg19) ; chr12:g.6974563G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974563G>T , CM000674.2:g.6974563G>T	GRCh38
NC_000012.11:g.7083725G>T , CM000674.1:g.7083725G>T	GRCh37
NC_000012.10:g.6953986G>T	NCBI36
NG_021408.1:g.8783G>T
NG_021408.2:g.8783G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.282G>T MANE Select	ENSP00000470560.1:p.Met94Ile
ENST00000261406.7:c.264G>T	ENSP00000476966.2:p.Met88Ile
ENST00000539196.2:c.145G>T
ENST00000599672.5:c.282G>T	ENSP00000470560.1:p.Met94Ile
ENST00000607161.5:c.285G>T	ENSP00000480420.1:p.Met95Ile
ENST00000611981.1:n.293G>T
ENST00000620255.1:n.382G>T
NM_006331.7:c.282G>T	NP_006322.4:p.Met94Ile
XM_011520907.1:c.282G>T	XP_011519209.1:p.Met94Ile
NM_001320049.1:c.282G>T	NP_001306978.1:p.Met94Ile
NR_135131.1:n.425G>T
NM_006331.8:c.282G>T MANE Select	NP_006322.4:p.Met94Ile
NM_001320049.2:c.282G>T	NP_001306978.1:p.Met94Ile
NR_135131.2:n.293G>T