Canonical Allele Identifier: CA383683162

Gene: EMG1

Linked Data

• gnomAD v4: 12-6974437-C-G
• MyVariant Identifiers: chr12:g.7083599C>G (hg19) ; chr12:g.6974437C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974437C>G , CM000674.2:g.6974437C>G	GRCh38
NC_000012.11:g.7083599C>G , CM000674.1:g.7083599C>G	GRCh37
NC_000012.10:g.6953860C>G	NCBI36
NG_021408.1:g.8657C>G
NG_021408.2:g.8657C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000599672.6:c.267C>G MANE Select	ENSP00000470560.1:p.His89Gln
ENST00000261406.7:c.249C>G	ENSP00000476966.2:p.His83Gln
ENST00000539196.2:c.130C>G
ENST00000599672.5:c.267C>G	ENSP00000470560.1:p.His89Gln
ENST00000607161.5:c.270C>G	ENSP00000480420.1:p.His90Gln
ENST00000611981.1:n.278C>G
ENST00000620255.1:n.256C>G
NM_006331.7:c.267C>G	NP_006322.4:p.His89Gln
XM_011520907.1:c.267C>G	XP_011519209.1:p.His89Gln
NM_001320049.1:c.267C>G	NP_001306978.1:p.His89Gln
NR_135131.1:n.410C>G
NM_006331.8:c.267C>G MANE Select	NP_006322.4:p.His89Gln
NM_001320049.2:c.267C>G	NP_001306978.1:p.His89Gln
NR_135131.2:n.278C>G