Canonical Allele Identifier: CA10561632

Gene: EMD

Linked Data

• dbSNP Id: rs782412064
• ExAC: X:153609346 C / T
• gnomAD v2: X-153609346-C-T
• gnomAD v4: X-154380986-C-T
• COSMIC: COSM3559745
• MyVariant Identifiers: chrX:g.153609346C>T (hg19) ; chrX:g.154380986C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380986C>T , CM000685.2:g.154380986C>T	GRCh38
NC_000023.10:g.153609346C>T , CM000685.1:g.153609346C>T	GRCh37
NC_000023.9:g.153262540C>T	NCBI36
NG_008677.1:g.11551C>T , LRG_745:g.11551C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.554C>T	ENSP00000507245.1:p.Ser185Phe
ENST00000682478.1:n.744C>T
ENST00000683576.1:n.744C>T
ENST00000683627.1:c.554C>T	ENSP00000507533.1:p.Ser185Phe
ENST00000684082.1:c.511C>T	ENSP00000508266.1:n.511C>T
ENST00000684633.1:n.526C>T
ENST00000684678.1:c.550C>T	ENSP00000507059.1:n.550C>T
ENST00000369842.9:c.554C>T MANE Select	ENSP00000358857.4:p.Ser185Phe
ENST00000369835.3:c.449C>T	ENSP00000358850.3:p.Ser150Phe
ENST00000369842.8:c.554C>T	ENSP00000358857.4:p.Ser185Phe
ENST00000428228.5:c.*459C>T	ENSP00000401081.1:n.*459C>T
ENST00000471965.1:n.343C>T
ENST00000486738.5:n.991C>T
ENST00000492448.1:n.537C>T
NM_000117.2:c.554C>T , LRG_745t1:c.554C>T	NP_000108.1:p.Ser185Phe
XM_024452349.1:c.560C>T	XP_024308117.1:p.Ser187Phe
NM_000117.3:c.554C>T MANE Select	NP_000108.1:p.Ser185Phe