Canonical Allele Identifier: CA1138576142

Gene: EMD

Linked Data

• dbSNP Id: rs2067872265
• gnomAD v3: X-154379404-C-T
• gnomAD v4: X-154379404-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379404C>T , CM000685.2:g.154379404C>T	GRCh38
NC_000023.10:g.153607764C>T , CM000685.1:g.153607764C>T	GRCh37
NC_000023.9:g.153260958C>T	NCBI36
NG_008677.1:g.9969C>T , LRG_745:g.9969C>T
NG_011506.1:g.243G>A
NG_011506.2:g.235G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369842.9:c.-81C>T MANE Select	ENSP00000358857.4:n.-81C>T
ENST00000369835.3:c.-81C>T	ENSP00000358850.3:n.-81C>T
ENST00000369842.8:c.-81C>T	ENSP00000358857.4:n.-81C>T
ENST00000428228.5:c.-81C>T	ENSP00000401081.1:n.-81C>T
ENST00000485261.1:n.1C>T
ENST00000486738.5:n.64C>T
NM_000117.2:c.-81C>T , LRG_745t1:c.-81C>T	NP_000108.1:n.-81C>T
XM_024452349.1:c.-289C>T	XP_024308117.1:n.-289C>T
NM_000117.3:c.-81C>T MANE Select	NP_000108.1:n.-81C>T