Canonical Allele Identifier: CA2695115018

Gene: EMD

Linked Data

• gnomAD v4: X-154379468-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379468C>G , CM000685.2:g.154379468C>G	GRCh38
NC_000023.10:g.153607828C>G , CM000685.1:g.153607828C>G	GRCh37
NC_000023.9:g.153261022C>G	NCBI36
NG_008677.1:g.10033C>G , LRG_745:g.10033C>G
NG_011506.1:g.179G>C
NG_011506.2:g.171G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.-17C>G	ENSP00000507245.1:n.-17C>G
ENST00000369842.9:c.-17C>G MANE Select	ENSP00000358857.4:n.-17C>G
ENST00000369835.3:c.-17C>G	ENSP00000358850.3:n.-17C>G
ENST00000369842.8:c.-17C>G	ENSP00000358857.4:n.-17C>G
ENST00000428228.5:c.-17C>G	ENSP00000401081.1:n.-17C>G
ENST00000485261.1:n.65C>G
ENST00000486738.5:n.128C>G
ENST00000494443.5:n.41C>G
NM_000117.2:c.-17C>G , LRG_745t1:c.-17C>G	NP_000108.1:n.-17C>G
XM_024452349.1:c.-225C>G	XP_024308117.1:n.-225C>G
NM_000117.3:c.-17C>G MANE Select	NP_000108.1:n.-17C>G