Canonical Allele Identifier: CA415258830

Gene: EMD

Linked Data

• gnomAD v4: X-154380992-C-T
• MyVariant Identifiers: chrX:g.153609352C>T (hg19) ; chrX:g.154380992C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380992C>T , CM000685.2:g.154380992C>T	GRCh38
NC_000023.10:g.153609352C>T , CM000685.1:g.153609352C>T	GRCh37
NC_000023.9:g.153262546C>T	NCBI36
NG_008677.1:g.11557C>T , LRG_745:g.11557C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.560C>T	ENSP00000507245.1:p.Ser187Phe
ENST00000682478.1:n.750C>T
ENST00000683576.1:n.750C>T
ENST00000683627.1:c.560C>T	ENSP00000507533.1:p.Ser187Phe
ENST00000684082.1:c.517C>T	ENSP00000508266.1:n.517C>T
ENST00000684633.1:n.532C>T
ENST00000684678.1:c.556C>T	ENSP00000507059.1:n.556C>T
ENST00000369842.9:c.560C>T MANE Select	ENSP00000358857.4:p.Ser187Phe
ENST00000369835.3:c.455C>T	ENSP00000358850.3:p.Ser152Phe
ENST00000369842.8:c.560C>T	ENSP00000358857.4:p.Ser187Phe
ENST00000428228.5:c.*465C>T	ENSP00000401081.1:n.*465C>T
ENST00000471965.1:n.349C>T
ENST00000486738.5:n.997C>T
ENST00000492448.1:n.543C>T
NM_000117.2:c.560C>T , LRG_745t1:c.560C>T	NP_000108.1:p.Ser187Phe
XM_024452349.1:c.566C>T	XP_024308117.1:p.Ser189Phe
NM_000117.3:c.560C>T MANE Select	NP_000108.1:p.Ser187Phe