Canonical Allele Identifier: CA383682631

Gene: EMG1

Linked Data

• dbSNP Id: rs1946367333
• gnomAD v3: 12-6974369-G-A
• gnomAD v4: 12-6974369-G-A
• MyVariant Identifiers: chr12:g.7083531G>A (hg19) ; chr12:g.6974369G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974369G>A , CM000674.2:g.6974369G>A	GRCh38
NC_000012.11:g.7083531G>A , CM000674.1:g.7083531G>A	GRCh37
NC_000012.10:g.6953792G>A	NCBI36
NG_021408.1:g.8589G>A
NG_021408.2:g.8589G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.199G>A MANE Select	ENSP00000470560.1:p.Asp67Asn
ENST00000261406.7:c.181G>A	ENSP00000476966.2:p.Asp61Asn
ENST00000539196.2:c.62G>A
ENST00000599672.5:c.199G>A	ENSP00000470560.1:p.Asp67Asn
ENST00000607161.5:c.202G>A	ENSP00000480420.1:p.Asp68Asn
ENST00000611981.1:n.210G>A
ENST00000620255.1:n.188G>A
NM_006331.7:c.199G>A	NP_006322.4:p.Asp67Asn
XM_011520907.1:c.199G>A	XP_011519209.1:p.Asp67Asn
NM_001320049.1:c.199G>A	NP_001306978.1:p.Asp67Asn
NR_135131.1:n.342G>A
NM_006331.8:c.199G>A MANE Select	NP_006322.4:p.Asp67Asn
NM_001320049.2:c.199G>A	NP_001306978.1:p.Asp67Asn
NR_135131.2:n.210G>A