Canonical Allele Identifier: CA10561610

Gene: EMD

Linked Data

• ClinVar Variation Id: 281956
• ClinVar RCV Id: RCV000272940 ; RCV001424183
• dbSNP Id: rs782467790
• ExAC: X:153609172 G / C
• gnomAD v2: X-153609172-G-C
• gnomAD v3: X-154380812-G-C
• gnomAD v4: X-154380812-G-C
• MyVariant Identifiers: chrX:g.153609172G>C (hg19) ; chrX:g.154380812G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380812G>C , CM000685.2:g.154380812G>C	GRCh38
NC_000023.10:g.153609172G>C , CM000685.1:g.153609172G>C	GRCh37
NC_000023.9:g.153262366G>C	NCBI36
NG_008677.1:g.11377G>C , LRG_745:g.11377G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.449+10G>C	ENSP00000507245.1:n.449+10G>C
ENST00000682478.1:n.639+10G>C
ENST00000683576.1:n.639+10G>C
ENST00000683627.1:c.449+10G>C	ENSP00000507533.1:n.449+10G>C
ENST00000684082.1:c.406+10G>C	ENSP00000508266.1:n.406+10G>C
ENST00000684633.1:n.421+10G>C
ENST00000684678.1:c.445+10G>C	ENSP00000507059.1:n.445+10G>C
ENST00000369842.9:c.449+10G>C MANE Select	ENSP00000358857.4:n.449+10G>C
ENST00000369835.3:c.344+10G>C	ENSP00000358850.3:n.344+10G>C
ENST00000369842.8:c.449+10G>C	ENSP00000358857.4:n.449+10G>C
ENST00000428228.5:c.*354+10G>C	ENSP00000401081.1:n.*354+10G>C
ENST00000468294.5:n.419G>C
ENST00000471965.1:n.238+10G>C
ENST00000485261.1:n.649G>C
ENST00000486738.5:n.817G>C
ENST00000492448.1:n.432+10G>C
NM_000117.2:c.449+10G>C , LRG_745t1:c.449+10G>C	NP_000108.1:n.449+10G>C
XM_024452349.1:c.455+10G>C	XP_024308117.1:n.455+10G>C
NM_000117.3:c.449+10G>C MANE Select	NP_000108.1:n.449+10G>C