Canonical Allele Identifier: CA1138576089
Gene: EMD HGNC NCBI

Linked Data

dbSNP Id: rs1390310729
gnomAD v3: X-154379298-C-G
gnomAD v4: X-154379298-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379298C>G , CM000685.2:g.154379298C>G GRCh38
NC_000023.10:g.153607658C>G , CM000685.1:g.153607658C>G GRCh37
NC_000023.9:g.153260852C>G NCBI36
NG_008677.1:g.9863C>G , LRG_745:g.9863C>G
NG_011506.1:g.349G>C
NG_011506.2:g.341G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369842.9:c.-187C>G MANE Select ENSP00000358857.4:n.-187C>G
ENST00000369835.3:c.-187C>G ENSP00000358850.3:n.-187C>G
ENST00000369842.8:c.-187C>G ENSP00000358857.4:n.-187C>G
NM_000117.2:c.-187C>G , LRG_745t1:c.-187C>G NP_000108.1:n.-187C>G
XM_024452349.1:c.-395C>G XP_024308117.1:n.-395C>G
NM_000117.3:c.-187C>G MANE Select NP_000108.1:n.-187C>G
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