Canonical Allele Identifier: CA2695114976

Gene: EMD

Linked Data

• gnomAD v4: X-154379402-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379402G>T , CM000685.2:g.154379402G>T	GRCh38
NC_000023.10:g.153607762G>T , CM000685.1:g.153607762G>T	GRCh37
NC_000023.9:g.153260956G>T	NCBI36
NG_008677.1:g.9967G>T , LRG_745:g.9967G>T
NG_011506.1:g.245C>A
NG_011506.2:g.237C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369842.9:c.-83G>T MANE Select	ENSP00000358857.4:n.-83G>T
ENST00000369835.3:c.-83G>T	ENSP00000358850.3:n.-83G>T
ENST00000369842.8:c.-83G>T	ENSP00000358857.4:n.-83G>T
ENST00000428228.5:c.-83G>T	ENSP00000401081.1:n.-83G>T
ENST00000486738.5:n.62G>T
NM_000117.2:c.-83G>T , LRG_745t1:c.-83G>T	NP_000108.1:n.-83G>T
XM_024452349.1:c.-291G>T	XP_024308117.1:n.-291G>T
NM_000117.3:c.-83G>T MANE Select	NP_000108.1:n.-83G>T