Canonical Allele Identifier: CA415258415

Gene: EMD

Linked Data

• dbSNP Id: rs376456050
• gnomAD v3: X-154380886-C-A
• gnomAD v4: X-154380886-C-A
• MyVariant Identifiers: chrX:g.153609246C>A (hg19) ; chrX:g.154380886C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380886C>A , CM000685.2:g.154380886C>A	GRCh38
NC_000023.10:g.153609246C>A , CM000685.1:g.153609246C>A	GRCh37
NC_000023.9:g.153262440C>A	NCBI36
NG_008677.1:g.11451C>A , LRG_745:g.11451C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.454C>A	ENSP00000507245.1:p.Arg152Ser
ENST00000682478.1:n.644C>A
ENST00000683576.1:n.644C>A
ENST00000683627.1:c.454C>A	ENSP00000507533.1:p.Arg152Ser
ENST00000684082.1:c.411C>A	ENSP00000508266.1:n.411C>A
ENST00000684633.1:n.426C>A
ENST00000684678.1:c.450C>A	ENSP00000507059.1:n.450C>A
ENST00000369842.9:c.454C>A MANE Select	ENSP00000358857.4:p.Arg152Ser
ENST00000369835.3:c.349C>A	ENSP00000358850.3:p.Arg117Ser
ENST00000369842.8:c.454C>A	ENSP00000358857.4:p.Arg152Ser
ENST00000428228.5:c.*359C>A	ENSP00000401081.1:n.*359C>A
ENST00000468294.5:n.493C>A
ENST00000471965.1:n.243C>A
ENST00000485261.1:n.723C>A
ENST00000486738.5:n.891C>A
ENST00000492448.1:n.437C>A
NM_000117.2:c.454C>A , LRG_745t1:c.454C>A	NP_000108.1:p.Arg152Ser
XM_024452349.1:c.460C>A	XP_024308117.1:p.Arg154Ser
NM_000117.3:c.454C>A MANE Select	NP_000108.1:p.Arg152Ser