Canonical Allele Identifier: CA10561608

Gene: EMD

Linked Data

• ClinVar Variation Id: 237014
• ClinVar RCV Id: RCV000230785 ; RCV000594536
• dbSNP Id: rs2070818
• ExAC: X:153609158 G / C
• gnomAD v2: X-153609158-G-C
• gnomAD v3: X-154380798-G-C
• gnomAD v4: X-154380798-G-C
• MyVariant Identifiers: chrX:g.153609158G>C (hg19) ; chrX:g.154380798G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380798G>C , CM000685.2:g.154380798G>C	GRCh38
NC_000023.10:g.153609158G>C , CM000685.1:g.153609158G>C	GRCh37
NC_000023.9:g.153262352G>C	NCBI36
NG_008677.1:g.11363G>C , LRG_745:g.11363G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.445G>C	ENSP00000507245.1:p.Asp149His
ENST00000682478.1:n.635G>C
ENST00000683576.1:n.635G>C
ENST00000683627.1:c.445G>C	ENSP00000507533.1:p.Asp149His
ENST00000684082.1:c.402G>C	ENSP00000508266.1:n.402G>C
ENST00000684633.1:n.417G>C
ENST00000684678.1:c.441G>C	ENSP00000507059.1:n.441G>C
ENST00000369842.9:c.445G>C MANE Select	ENSP00000358857.4:p.Asp149His
ENST00000369835.3:c.340G>C	ENSP00000358850.3:p.Asp114His
ENST00000369842.8:c.445G>C	ENSP00000358857.4:p.Asp149His
ENST00000428228.5:c.*350G>C	ENSP00000401081.1:n.*350G>C
ENST00000468294.5:n.405G>C
ENST00000471965.1:n.234G>C
ENST00000485261.1:n.635G>C
ENST00000486738.5:n.803G>C
ENST00000492448.1:n.428G>C
NM_000117.2:c.445G>C , LRG_745t1:c.445G>C	NP_000108.1:p.Asp149His
XM_024452349.1:c.451G>C	XP_024308117.1:p.Asp151His
NM_000117.3:c.445G>C MANE Select	NP_000108.1:p.Asp149His