Canonical Allele Identifier: CA2504148700
Gene: EMD HGNC NCBI

Linked Data

gnomAD v4: X-154379307-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379307C>T , CM000685.2:g.154379307C>T GRCh38
NC_000023.10:g.153607667C>T , CM000685.1:g.153607667C>T GRCh37
NC_000023.9:g.153260861C>T NCBI36
NG_008677.1:g.9872C>T , LRG_745:g.9872C>T
NG_011506.1:g.340G>A
NG_011506.2:g.332G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369842.9:c.-178C>T MANE Select ENSP00000358857.4:n.-178C>T
ENST00000369835.3:c.-178C>T ENSP00000358850.3:n.-178C>T
ENST00000369842.8:c.-178C>T ENSP00000358857.4:n.-178C>T
NM_000117.2:c.-178C>T , LRG_745t1:c.-178C>T NP_000108.1:n.-178C>T
XM_024452349.1:c.-386C>T XP_024308117.1:n.-386C>T
NM_000117.3:c.-178C>T MANE Select NP_000108.1:n.-178C>T
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