Canonical Allele Identifier: CA10561521

Gene: EMD

Linked Data

• dbSNP Id: rs782713376
• ExAC: X:153608137 C / T
• gnomAD v2: X-153608137-C-T
• gnomAD v4: X-154379777-C-T
• COSMIC: COSM6050204
• MyVariant Identifiers: chrX:g.153608137C>T (hg19) ; chrX:g.154379777C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379777C>T , CM000685.2:g.154379777C>T	GRCh38
NC_000023.10:g.153608137C>T , CM000685.1:g.153608137C>T	GRCh37
NC_000023.9:g.153261331C>T	NCBI36
NG_008677.1:g.10342C>T , LRG_745:g.10342C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.170C>T	ENSP00000507245.1:p.Ser57Phe
ENST00000682478.1:n.146C>T
ENST00000683576.1:n.146C>T
ENST00000683627.1:c.170C>T	ENSP00000507533.1:p.Ser57Phe
ENST00000684082.1:c.170C>T	ENSP00000508266.1:p.Ser57Phe
ENST00000684633.1:n.142C>T
ENST00000684678.1:c.166C>T	ENSP00000507059.1:p.Pro56Ser
ENST00000369842.9:c.170C>T MANE Select	ENSP00000358857.4:p.Ser57Phe
ENST00000369835.3:c.83-165C>T	ENSP00000358850.3:n.83-165C>T
ENST00000369842.8:c.170C>T	ENSP00000358857.4:p.Ser57Phe
ENST00000428228.5:c.*75C>T	ENSP00000401081.1:n.*75C>T
ENST00000468294.5:n.130C>T
ENST00000485261.1:n.164-165C>T
ENST00000486738.5:n.314C>T
ENST00000492448.1:n.153C>T
ENST00000494443.5:n.227C>T
NM_000117.2:c.170C>T , LRG_745t1:c.170C>T	NP_000108.1:p.Ser57Phe
XM_024452349.1:c.-39C>T	XP_024308117.1:n.-39C>T
NM_000117.3:c.170C>T MANE Select	NP_000108.1:p.Ser57Phe