Canonical Allele Identifier: CA335149

Gene: EMD

Linked Data

• ClinVar Variation Id: 201773
• ClinVar RCV Id: RCV000183442 ; RCV000804499 ; RCV001271616 ; RCV002326991
• dbSNP Id: rs370840449
• ExAC: X:153609167 G / A
• gnomAD v2: X-153609167-G-A
• gnomAD v3: X-154380807-G-A
• gnomAD v4: X-154380807-G-A
• MyVariant Identifiers: chrX:g.153609167G>A (hg19) ; chrX:g.154380807G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380807G>A , CM000685.2:g.154380807G>A	GRCh38
NC_000023.10:g.153609167G>A , CM000685.1:g.153609167G>A	GRCh37
NC_000023.9:g.153262361G>A	NCBI36
NG_008677.1:g.11372G>A , LRG_745:g.11372G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.449+5G>A	ENSP00000507245.1:n.449+5G>A
ENST00000682478.1:n.639+5G>A
ENST00000683576.1:n.639+5G>A
ENST00000683627.1:c.449+5G>A	ENSP00000507533.1:n.449+5G>A
ENST00000684082.1:c.406+5G>A	ENSP00000508266.1:n.406+5G>A
ENST00000684633.1:n.421+5G>A
ENST00000684678.1:c.445+5G>A	ENSP00000507059.1:n.445+5G>A
ENST00000369842.9:c.449+5G>A MANE Select	ENSP00000358857.4:n.449+5G>A
ENST00000369835.3:c.344+5G>A	ENSP00000358850.3:n.344+5G>A
ENST00000369842.8:c.449+5G>A	ENSP00000358857.4:n.449+5G>A
ENST00000428228.5:c.*354+5G>A	ENSP00000401081.1:n.*354+5G>A
ENST00000468294.5:n.414G>A
ENST00000471965.1:n.238+5G>A
ENST00000485261.1:n.644G>A
ENST00000486738.5:n.812G>A
ENST00000492448.1:n.432+5G>A
NM_000117.2:c.449+5G>A , LRG_745t1:c.449+5G>A	NP_000108.1:n.449+5G>A
XM_024452349.1:c.455+5G>A	XP_024308117.1:n.455+5G>A
NM_000117.3:c.449+5G>A MANE Select	NP_000108.1:n.449+5G>A