Canonical Allele Identifier: CA1138576086
Gene: EMD HGNC NCBI

Linked Data

dbSNP Id: rs2067871412
gnomAD v3: X-154379295-A-T
gnomAD v4: X-154379295-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379295A>T , CM000685.2:g.154379295A>T GRCh38
NC_000023.10:g.153607655A>T , CM000685.1:g.153607655A>T GRCh37
NC_000023.9:g.153260849A>T NCBI36
NG_008677.1:g.9860A>T , LRG_745:g.9860A>T
NG_011506.1:g.352T>A
NG_011506.2:g.344T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369842.9:c.-190A>T MANE Select ENSP00000358857.4:n.-190A>T
ENST00000369835.3:c.-190A>T ENSP00000358850.3:n.-190A>T
ENST00000369842.8:c.-190A>T ENSP00000358857.4:n.-190A>T
NM_000117.2:c.-190A>T , LRG_745t1:c.-190A>T NP_000108.1:n.-190A>T
XM_024452349.1:c.-398A>T XP_024308117.1:n.-398A>T
NM_000117.3:c.-190A>T MANE Select NP_000108.1:n.-190A>T
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