Canonical Allele Identifier: CA415257499

Gene: EMD

Linked Data

• dbSNP Id: rs2148128173
• MyVariant Identifiers: chrX:g.153608121A>C (hg19) ; chrX:g.154379761A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379761A>C , CM000685.2:g.154379761A>C	GRCh38
NC_000023.10:g.153608121A>C , CM000685.1:g.153608121A>C	GRCh37
NC_000023.9:g.153261315A>C	NCBI36
NG_008677.1:g.10326A>C , LRG_745:g.10326A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.154A>C	ENSP00000507245.1:p.Ser52Arg
ENST00000682478.1:n.130A>C
ENST00000683576.1:n.130A>C
ENST00000683627.1:c.154A>C	ENSP00000507533.1:p.Ser52Arg
ENST00000684082.1:c.154A>C	ENSP00000508266.1:p.Ser52Arg
ENST00000684633.1:n.126A>C
ENST00000684678.1:c.150A>C	ENSP00000507059.1:p.Pro50=
ENST00000369842.9:c.154A>C MANE Select	ENSP00000358857.4:p.Ser52Arg
ENST00000369835.3:c.83-181A>C	ENSP00000358850.3:n.83-181A>C
ENST00000369842.8:c.154A>C	ENSP00000358857.4:p.Ser52Arg
ENST00000428228.5:c.*59A>C	ENSP00000401081.1:n.*59A>C
ENST00000468294.5:n.114A>C
ENST00000485261.1:n.164-181A>C
ENST00000486738.5:n.298A>C
ENST00000492448.1:n.137A>C
ENST00000494443.5:n.211A>C
NM_000117.2:c.154A>C , LRG_745t1:c.154A>C	NP_000108.1:p.Ser52Arg
XM_024452349.1:c.-55A>C	XP_024308117.1:n.-55A>C
NM_000117.3:c.154A>C MANE Select	NP_000108.1:p.Ser52Arg