Canonical Allele Identifier: CA2695115132

Gene: EMD

Linked Data

• gnomAD v4: X-154379900-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379900G>C , CM000685.2:g.154379900G>C	GRCh38
NC_000023.10:g.153608260G>C , CM000685.1:g.153608260G>C	GRCh37
NC_000023.9:g.153261454G>C	NCBI36
NG_008677.1:g.10465G>C , LRG_745:g.10465G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.188-42G>C	ENSP00000507245.1:n.188-42G>C
ENST00000682478.1:n.164-42G>C
ENST00000683576.1:n.164-42G>C
ENST00000683627.1:c.188-42G>C	ENSP00000507533.1:n.188-42G>C
ENST00000684082.1:c.188-42G>C	ENSP00000508266.1:n.188-42G>C
ENST00000684633.1:n.160-42G>C
ENST00000684678.1:c.184-42G>C	ENSP00000507059.1:n.184-42G>C
ENST00000369842.9:c.188-42G>C MANE Select	ENSP00000358857.4:n.188-42G>C
ENST00000369835.3:c.83-42G>C	ENSP00000358850.3:n.83-42G>C
ENST00000369842.8:c.188-42G>C	ENSP00000358857.4:n.188-42G>C
ENST00000428228.5:c.*93-42G>C	ENSP00000401081.1:n.*93-42G>C
ENST00000468294.5:n.148-42G>C
ENST00000485261.1:n.164-42G>C
ENST00000486738.5:n.332-42G>C
ENST00000492448.1:n.171-42G>C
ENST00000494443.5:n.245-42G>C
NM_000117.2:c.188-42G>C , LRG_745t1:c.188-42G>C	NP_000108.1:n.188-42G>C
XM_024452349.1:c.-21-42G>C	XP_024308117.1:n.-21-42G>C
NM_000117.3:c.188-42G>C MANE Select	NP_000108.1:n.188-42G>C