Canonical Allele Identifier: CA6422689

Gene: EMG1

Linked Data

• dbSNP Id: rs781896004
• ExAC: 12:7083594 A / G
• gnomAD v2: 12-7083594-A-G
• MyVariant Identifiers: chr12:g.7083594A>G (hg19) ; chr12:g.6974432A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974432A>G , CM000674.2:g.6974432A>G	GRCh38
NC_000012.11:g.7083594A>G , CM000674.1:g.7083594A>G	GRCh37
NC_000012.10:g.6953855A>G	NCBI36
NG_021408.1:g.8652A>G
NG_021408.2:g.8652A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000599672.6:c.262A>G MANE Select	ENSP00000470560.1:p.Thr88Ala
ENST00000261406.7:c.244A>G	ENSP00000476966.2:p.Thr82Ala
ENST00000539196.2:c.125A>G
ENST00000599672.5:c.262A>G	ENSP00000470560.1:p.Thr88Ala
ENST00000607161.5:c.265A>G	ENSP00000480420.1:p.Thr89Ala
ENST00000611981.1:n.273A>G
ENST00000620255.1:n.251A>G
NM_006331.7:c.262A>G	NP_006322.4:p.Thr88Ala
XM_011520907.1:c.262A>G	XP_011519209.1:p.Thr88Ala
NM_001320049.1:c.262A>G	NP_001306978.1:p.Thr88Ala
NR_135131.1:n.405A>G
NM_006331.8:c.262A>G MANE Select	NP_006322.4:p.Thr88Ala
NM_001320049.2:c.262A>G	NP_001306978.1:p.Thr88Ala
NR_135131.2:n.273A>G