Canonical Allele Identifier: CA383683175

Gene: EMG1

Linked Data

• MyVariant Identifiers: chr12:g.7083602G>C (hg19) ; chr12:g.6974440G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974440G>C , CM000674.2:g.6974440G>C	GRCh38
NC_000012.11:g.7083602G>C , CM000674.1:g.7083602G>C	GRCh37
NC_000012.10:g.6953863G>C	NCBI36
NG_021408.1:g.8660G>C
NG_021408.2:g.8660G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000599672.6:c.270G>C MANE Select	ENSP00000470560.1:p.Gln90His
ENST00000261406.7:c.252G>C	ENSP00000476966.2:p.Gln84His
ENST00000539196.2:c.133G>C
ENST00000599672.5:c.270G>C	ENSP00000470560.1:p.Gln90His
ENST00000607161.5:c.273G>C	ENSP00000480420.1:p.Gln91His
ENST00000611981.1:n.281G>C
ENST00000620255.1:n.259G>C
NM_006331.7:c.270G>C	NP_006322.4:p.Gln90His
XM_011520907.1:c.270G>C	XP_011519209.1:p.Gln90His
NM_001320049.1:c.270G>C	NP_001306978.1:p.Gln90His
NR_135131.1:n.413G>C
NM_006331.8:c.270G>C MANE Select	NP_006322.4:p.Gln90His
NM_001320049.2:c.270G>C	NP_001306978.1:p.Gln90His
NR_135131.2:n.281G>C