Canonical Allele Identifier: CA2695114960

Gene: EMD

Linked Data

• gnomAD v4: X-154379383-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379383A>T , CM000685.2:g.154379383A>T	GRCh38
NC_000023.10:g.153607743A>T , CM000685.1:g.153607743A>T	GRCh37
NC_000023.9:g.153260937A>T	NCBI36
NG_008677.1:g.9948A>T , LRG_745:g.9948A>T
NG_011506.1:g.264T>A
NG_011506.2:g.256T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369842.9:c.-102A>T MANE Select	ENSP00000358857.4:n.-102A>T
ENST00000369835.3:c.-102A>T	ENSP00000358850.3:n.-102A>T
ENST00000369842.8:c.-102A>T	ENSP00000358857.4:n.-102A>T
ENST00000428228.5:c.-102A>T	ENSP00000401081.1:n.-102A>T
ENST00000486738.5:n.43A>T
NM_000117.2:c.-102A>T , LRG_745t1:c.-102A>T	NP_000108.1:n.-102A>T
XM_024452349.1:c.-310A>T	XP_024308117.1:n.-310A>T
NM_000117.3:c.-102A>T MANE Select	NP_000108.1:n.-102A>T