Canonical Allele Identifier: CA2695114887
Gene: EMD HGNC NCBI

Linked Data

gnomAD v4: X-154379297-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379297C>A , CM000685.2:g.154379297C>A GRCh38
NC_000023.10:g.153607657C>A , CM000685.1:g.153607657C>A GRCh37
NC_000023.9:g.153260851C>A NCBI36
NG_008677.1:g.9862C>A , LRG_745:g.9862C>A
NG_011506.1:g.350G>T
NG_011506.2:g.342G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369842.9:c.-188C>A MANE Select ENSP00000358857.4:n.-188C>A
ENST00000369835.3:c.-188C>A ENSP00000358850.3:n.-188C>A
ENST00000369842.8:c.-188C>A ENSP00000358857.4:n.-188C>A
NM_000117.2:c.-188C>A , LRG_745t1:c.-188C>A NP_000108.1:n.-188C>A
XM_024452349.1:c.-396C>A XP_024308117.1:n.-396C>A
NM_000117.3:c.-188C>A MANE Select NP_000108.1:n.-188C>A
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