Canonical Allele Identifier: CA2014342615

Gene: EMG1

Linked Data

• dbSNP Id: rs1946369592
• gnomAD v4: 12-6974497-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974497G>A , CM000674.2:g.6974497G>A	GRCh38
NC_000012.11:g.7083659G>A , CM000674.1:g.7083659G>A	GRCh37
NC_000012.10:g.6953920G>A	NCBI36
NG_021408.1:g.8717G>A
NG_021408.2:g.8717G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.271-55G>A MANE Select	ENSP00000470560.1:n.271-55G>A
ENST00000261406.7:c.253-55G>A	ENSP00000476966.2:n.253-55G>A
ENST00000539196.2:c.134-55G>A
ENST00000599672.5:c.271-55G>A	ENSP00000470560.1:n.271-55G>A
ENST00000607161.5:c.274-55G>A	ENSP00000480420.1:n.274-55G>A
ENST00000611981.1:n.282-55G>A
ENST00000620255.1:n.316G>A
NM_006331.7:c.271-55G>A	NP_006322.4:n.271-55G>A
XM_011520907.1:c.271-55G>A	XP_011519209.1:n.271-55G>A
NM_001320049.1:c.271-55G>A	NP_001306978.1:n.271-55G>A
NR_135131.1:n.414-55G>A
NM_006331.8:c.271-55G>A MANE Select	NP_006322.4:n.271-55G>A
NM_001320049.2:c.271-55G>A	NP_001306978.1:n.271-55G>A
NR_135131.2:n.282-55G>A