Canonical Allele Identifier: CA645290612

Gene: EMD

Linked Data

• dbSNP Id: rs1333887945
• gnomAD v2: X-153608515-A-C
• gnomAD v3: X-154380155-A-C
• gnomAD v4: X-154380155-A-C
• MyVariant Identifiers: chrX:g.153608515A>C (hg19) ; chrX:g.154380155A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380155A>C , CM000685.2:g.154380155A>C	GRCh38
NC_000023.10:g.153608515A>C , CM000685.1:g.153608515A>C	GRCh37
NC_000023.9:g.153261709A>C	NCBI36
NG_008677.1:g.10720A>C , LRG_745:g.10720A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.266-79A>C	ENSP00000507245.1:n.266-79A>C
ENST00000682478.1:n.377A>C
ENST00000683576.1:n.377A>C
ENST00000683627.1:c.266-79A>C	ENSP00000507533.1:n.266-79A>C
ENST00000684082.1:c.266-122A>C	ENSP00000508266.1:n.266-122A>C
ENST00000684633.1:n.238-79A>C
ENST00000684678.1:c.262-79A>C	ENSP00000507059.1:n.262-79A>C
ENST00000369842.9:c.266-79A>C MANE Select	ENSP00000358857.4:n.266-79A>C
ENST00000369835.3:c.161-79A>C	ENSP00000358850.3:n.161-79A>C
ENST00000369842.8:c.266-79A>C	ENSP00000358857.4:n.266-79A>C
ENST00000428228.5:c.*171-79A>C	ENSP00000401081.1:n.*171-79A>C
ENST00000468294.5:n.226-79A>C
ENST00000485261.1:n.377A>C
ENST00000486738.5:n.545A>C
ENST00000492448.1:n.249-79A>C
ENST00000494443.5:n.458A>C
NM_000117.2:c.266-79A>C , LRG_745t1:c.266-79A>C	NP_000108.1:n.266-79A>C
XM_024452349.1:c.193A>C	XP_024308117.1:p.Asn65His
NM_000117.3:c.266-79A>C MANE Select	NP_000108.1:n.266-79A>C