Canonical Allele Identifier: CA2014342632

Gene: EMG1

Linked Data

• dbSNP Id: rs1946370170
• gnomAD v4: 12-6974513-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974513C>T , CM000674.2:g.6974513C>T	GRCh38
NC_000012.11:g.7083675C>T , CM000674.1:g.7083675C>T	GRCh37
NC_000012.10:g.6953936C>T	NCBI36
NG_021408.1:g.8733C>T
NG_021408.2:g.8733C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.271-39C>T MANE Select	ENSP00000470560.1:n.271-39C>T
ENST00000261406.7:c.253-39C>T	ENSP00000476966.2:n.253-39C>T
ENST00000539196.2:c.134-39C>T
ENST00000599672.5:c.271-39C>T	ENSP00000470560.1:n.271-39C>T
ENST00000607161.5:c.274-39C>T	ENSP00000480420.1:n.274-39C>T
ENST00000611981.1:n.282-39C>T
ENST00000620255.1:n.332C>T
NM_006331.7:c.271-39C>T	NP_006322.4:n.271-39C>T
XM_011520907.1:c.271-39C>T	XP_011519209.1:n.271-39C>T
NM_001320049.1:c.271-39C>T	NP_001306978.1:n.271-39C>T
NR_135131.1:n.414-39C>T
NM_006331.8:c.271-39C>T MANE Select	NP_006322.4:n.271-39C>T
NM_001320049.2:c.271-39C>T	NP_001306978.1:n.271-39C>T
NR_135131.2:n.282-39C>T