Canonical Allele Identifier: CA2695114835
Gene: EMD HGNC NCBI

Linked Data

gnomAD v4: X-154379239-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379239C>A , CM000685.2:g.154379239C>A GRCh38
NC_000023.10:g.153607599C>A , CM000685.1:g.153607599C>A GRCh37
NC_000023.9:g.153260793C>A NCBI36
NG_008677.1:g.9804C>A , LRG_745:g.9804C>A
NG_011506.1:g.408G>T
NG_011506.2:g.400G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369842.8:c.-246C>A ENSP00000358857.4:n.-246C>A
NM_000117.2:c.-246C>A , LRG_745t1:c.-246C>A NP_000108.1:n.-246C>A
XM_024452349.1:c.-454C>A XP_024308117.1:n.-454C>A
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