Canonical Allele Identifier: CA2695114894
Gene: EMD HGNC NCBI

Linked Data

gnomAD v4: X-154379308-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379308A>C , CM000685.2:g.154379308A>C GRCh38
NC_000023.10:g.153607668A>C , CM000685.1:g.153607668A>C GRCh37
NC_000023.9:g.153260862A>C NCBI36
NG_008677.1:g.9873A>C , LRG_745:g.9873A>C
NG_011506.1:g.339T>G
NG_011506.2:g.331T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369842.9:c.-177A>C MANE Select ENSP00000358857.4:n.-177A>C
ENST00000369835.3:c.-177A>C ENSP00000358850.3:n.-177A>C
ENST00000369842.8:c.-177A>C ENSP00000358857.4:n.-177A>C
NM_000117.2:c.-177A>C , LRG_745t1:c.-177A>C NP_000108.1:n.-177A>C
XM_024452349.1:c.-385A>C XP_024308117.1:n.-385A>C
NM_000117.3:c.-177A>C MANE Select NP_000108.1:n.-177A>C
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