Canonical Allele Identifier: CA383682477

Gene: EMG1

Linked Data

• gnomAD v4: 12-6974345-A-G
• MyVariant Identifiers: chr12:g.7083507A>G (hg19) ; chr12:g.6974345A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974345A>G , CM000674.2:g.6974345A>G	GRCh38
NC_000012.11:g.7083507A>G , CM000674.1:g.7083507A>G	GRCh37
NC_000012.10:g.6953768A>G	NCBI36
NG_021408.1:g.8565A>G
NG_021408.2:g.8565A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.175A>G MANE Select	ENSP00000470560.1:p.Lys59Glu
ENST00000261406.7:c.157A>G	ENSP00000476966.2:p.Lys53Glu
ENST00000539196.2:c.38A>G
ENST00000599672.5:c.175A>G	ENSP00000470560.1:p.Lys59Glu
ENST00000607161.5:c.178A>G	ENSP00000480420.1:p.Lys60Glu
ENST00000611981.1:n.186A>G
ENST00000620255.1:n.164A>G
NM_006331.7:c.175A>G	NP_006322.4:p.Lys59Glu
XM_011520907.1:c.175A>G	XP_011519209.1:p.Lys59Glu
NM_001320049.1:c.175A>G	NP_001306978.1:p.Lys59Glu
NR_135131.1:n.318A>G
NM_006331.8:c.175A>G MANE Select	NP_006322.4:p.Lys59Glu
NM_001320049.2:c.175A>G	NP_001306978.1:p.Lys59Glu
NR_135131.2:n.186A>G