Canonical Allele Identifier: CA2695114888
Gene: EMD HGNC NCBI

Linked Data

gnomAD v4: X-154379298-C-A
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Genomic Alleles

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

Transcript Alleles

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