Canonical Allele Identifier: CA2695114880
Gene: EMD HGNC NCBI

Linked Data

gnomAD v4: X-154379289-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379289G>C , CM000685.2:g.154379289G>C GRCh38
NC_000023.10:g.153607649G>C , CM000685.1:g.153607649G>C GRCh37
NC_000023.9:g.153260843G>C NCBI36
NG_008677.1:g.9854G>C , LRG_745:g.9854G>C
NG_011506.1:g.358C>G
NG_011506.2:g.350C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369835.3:c.-196G>C ENSP00000358850.3:n.-196G>C
ENST00000369842.8:c.-196G>C ENSP00000358857.4:n.-196G>C
NM_000117.2:c.-196G>C , LRG_745t1:c.-196G>C NP_000108.1:n.-196G>C
XM_024452349.1:c.-404G>C XP_024308117.1:n.-404G>C
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