Canonical Allele Identifier: CA10561533

Gene: EMD

Linked Data

• dbSNP Id: rs782001859
• ExAC: X:153608263 T / C
• gnomAD v2: X-153608263-T-C
• gnomAD v4: X-154379903-T-C
• MyVariant Identifiers: chrX:g.153608263T>C (hg19) ; chrX:g.154379903T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379903T>C , CM000685.2:g.154379903T>C	GRCh38
NC_000023.10:g.153608263T>C , CM000685.1:g.153608263T>C	GRCh37
NC_000023.9:g.153261457T>C	NCBI36
NG_008677.1:g.10468T>C , LRG_745:g.10468T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.188-39T>C	ENSP00000507245.1:n.188-39T>C
ENST00000682478.1:n.164-39T>C
ENST00000683576.1:n.164-39T>C
ENST00000683627.1:c.188-39T>C	ENSP00000507533.1:n.188-39T>C
ENST00000684082.1:c.188-39T>C	ENSP00000508266.1:n.188-39T>C
ENST00000684633.1:n.160-39T>C
ENST00000684678.1:c.184-39T>C	ENSP00000507059.1:n.184-39T>C
ENST00000369842.9:c.188-39T>C MANE Select	ENSP00000358857.4:n.188-39T>C
ENST00000369835.3:c.83-39T>C	ENSP00000358850.3:n.83-39T>C
ENST00000369842.8:c.188-39T>C	ENSP00000358857.4:n.188-39T>C
ENST00000428228.5:c.*93-39T>C	ENSP00000401081.1:n.*93-39T>C
ENST00000468294.5:n.148-39T>C
ENST00000485261.1:n.164-39T>C
ENST00000486738.5:n.332-39T>C
ENST00000492448.1:n.171-39T>C
ENST00000494443.5:n.245-39T>C
NM_000117.2:c.188-39T>C , LRG_745t1:c.188-39T>C	NP_000108.1:n.188-39T>C
XM_024452349.1:c.-21-39T>C	XP_024308117.1:n.-21-39T>C
NM_000117.3:c.188-39T>C MANE Select	NP_000108.1:n.188-39T>C