Canonical Allele Identifier: CA2695114969

Gene: EMD

Linked Data

• gnomAD v4: X-154379397-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379397C>A , CM000685.2:g.154379397C>A	GRCh38
NC_000023.10:g.153607757C>A , CM000685.1:g.153607757C>A	GRCh37
NC_000023.9:g.153260951C>A	NCBI36
NG_008677.1:g.9962C>A , LRG_745:g.9962C>A
NG_011506.1:g.250G>T
NG_011506.2:g.242G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369842.9:c.-88C>A MANE Select	ENSP00000358857.4:n.-88C>A
ENST00000369835.3:c.-88C>A	ENSP00000358850.3:n.-88C>A
ENST00000369842.8:c.-88C>A	ENSP00000358857.4:n.-88C>A
ENST00000428228.5:c.-88C>A	ENSP00000401081.1:n.-88C>A
ENST00000486738.5:n.57C>A
NM_000117.2:c.-88C>A , LRG_745t1:c.-88C>A	NP_000108.1:n.-88C>A
XM_024452349.1:c.-296C>A	XP_024308117.1:n.-296C>A
NM_000117.3:c.-88C>A MANE Select	NP_000108.1:n.-88C>A