Canonical Allele Identifier: CA603487440

Gene: EMG1

Linked Data

• dbSNP Id: rs1555152770
• gnomAD v2: 12-7083701-C-G
• gnomAD v4: 12-6974539-C-G
• MyVariant Identifiers: chr12:g.7083701C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974539C>G , CM000674.2:g.6974539C>G	GRCh38
NC_000012.11:g.7083701C>G , CM000674.1:g.7083701C>G	GRCh37
NC_000012.10:g.6953962C>G	NCBI36
NG_021408.1:g.8759C>G
NG_021408.2:g.8759C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.271-13C>G MANE Select	ENSP00000470560.1:n.271-13C>G
ENST00000261406.7:c.253-13C>G	ENSP00000476966.2:n.253-13C>G
ENST00000539196.2:c.134-13C>G
ENST00000599672.5:c.271-13C>G	ENSP00000470560.1:n.271-13C>G
ENST00000607161.5:c.274-13C>G	ENSP00000480420.1:n.274-13C>G
ENST00000611981.1:n.282-13C>G
ENST00000620255.1:n.358C>G
NM_006331.7:c.271-13C>G	NP_006322.4:n.271-13C>G
XM_011520907.1:c.271-13C>G	XP_011519209.1:n.271-13C>G
NM_001320049.1:c.271-13C>G	NP_001306978.1:n.271-13C>G
NR_135131.1:n.414-13C>G
NM_006331.8:c.271-13C>G MANE Select	NP_006322.4:n.271-13C>G
NM_001320049.2:c.271-13C>G	NP_001306978.1:n.271-13C>G
NR_135131.2:n.282-13C>G