Canonical Allele Identifier: CA121381
Gene: EMD HGNC NCBI

Linked Data

ClinVar Variation Id: 11172
dbSNP Id: rs267606782

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379485A>G , CM000685.2:g.154379485A>G GRCh38
NC_000023.10:g.153607845A>G , CM000685.1:g.153607845A>G GRCh37
NC_000023.9:g.153261039A>G NCBI36
NG_008677.1:g.10050A>G , LRG_745:g.10050A>G
NG_011506.1:g.162T>C
NG_011506.2:g.154T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369842.9:c.1A>G
ENST00000369835.3:c.1A>G
ENST00000369842.8:c.1A>G
ENST00000428228.5:c.1A>G
ENST00000485261.1:n.82A>G
ENST00000486738.5:n.145A>G
ENST00000494443.5:n.58A>G
NM_000117.2:c.1A>G , LRG_745t1:c.1A>G
XM_024452349.1:c.-208A>G XP_024308117.1:p.=
NM_000117.3:c.1A>G