Canonical Allele Identifier: CA2695115020

Gene: EMD

Linked Data

• gnomAD v4: X-154379470-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379470G>A , CM000685.2:g.154379470G>A	GRCh38
NC_000023.10:g.153607830G>A , CM000685.1:g.153607830G>A	GRCh37
NC_000023.9:g.153261024G>A	NCBI36
NG_008677.1:g.10035G>A , LRG_745:g.10035G>A
NG_011506.1:g.177C>T
NG_011506.2:g.169C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.-15G>A	ENSP00000507245.1:n.-15G>A
ENST00000369842.9:c.-15G>A MANE Select	ENSP00000358857.4:n.-15G>A
ENST00000369835.3:c.-15G>A	ENSP00000358850.3:n.-15G>A
ENST00000369842.8:c.-15G>A	ENSP00000358857.4:n.-15G>A
ENST00000428228.5:c.-15G>A	ENSP00000401081.1:n.-15G>A
ENST00000485261.1:n.67G>A
ENST00000486738.5:n.130G>A
ENST00000494443.5:n.43G>A
NM_000117.2:c.-15G>A , LRG_745t1:c.-15G>A	NP_000108.1:n.-15G>A
XM_024452349.1:c.-223G>A	XP_024308117.1:n.-223G>A
NM_000117.3:c.-15G>A MANE Select	NP_000108.1:n.-15G>A