Canonical Allele Identifier: CA2695114981

Gene: EMD

Linked Data

• gnomAD v4: X-154379411-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379411C>G , CM000685.2:g.154379411C>G	GRCh38
NC_000023.10:g.153607771C>G , CM000685.1:g.153607771C>G	GRCh37
NC_000023.9:g.153260965C>G	NCBI36
NG_008677.1:g.9976C>G , LRG_745:g.9976C>G
NG_011506.1:g.236G>C
NG_011506.2:g.228G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000369842.9:c.-74C>G MANE Select	ENSP00000358857.4:n.-74C>G
ENST00000369835.3:c.-74C>G	ENSP00000358850.3:n.-74C>G
ENST00000369842.8:c.-74C>G	ENSP00000358857.4:n.-74C>G
ENST00000428228.5:c.-74C>G	ENSP00000401081.1:n.-74C>G
ENST00000485261.1:n.8C>G
ENST00000486738.5:n.71C>G
NM_000117.2:c.-74C>G , LRG_745t1:c.-74C>G	NP_000108.1:n.-74C>G
XM_024452349.1:c.-282C>G	XP_024308117.1:n.-282C>G
NM_000117.3:c.-74C>G MANE Select	NP_000108.1:n.-74C>G