Canonical Allele Identifier: CA415257630

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153608323A>C (hg19) ; chrX:g.154379963A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379963A>C , CM000685.2:g.154379963A>C	GRCh38
NC_000023.10:g.153608323A>C , CM000685.1:g.153608323A>C	GRCh37
NC_000023.9:g.153261517A>C	NCBI36
NG_008677.1:g.10528A>C , LRG_745:g.10528A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.209A>C	ENSP00000507245.1:p.Asp70Ala
ENST00000682478.1:n.185A>C
ENST00000683576.1:n.185A>C
ENST00000683627.1:c.209A>C	ENSP00000507533.1:p.Asp70Ala
ENST00000684082.1:c.209A>C	ENSP00000508266.1:p.Asp70Ala
ENST00000684633.1:n.181A>C
ENST00000684678.1:c.205A>C	ENSP00000507059.1:n.205A>C
ENST00000369842.9:c.209A>C MANE Select	ENSP00000358857.4:p.Asp70Ala
ENST00000369835.3:c.104A>C	ENSP00000358850.3:p.Asp35Ala
ENST00000369842.8:c.209A>C	ENSP00000358857.4:p.Asp70Ala
ENST00000428228.5:c.*114A>C	ENSP00000401081.1:n.*114A>C
ENST00000468294.5:n.169A>C
ENST00000485261.1:n.185A>C
ENST00000486738.5:n.353A>C
ENST00000492448.1:n.192A>C
ENST00000494443.5:n.266A>C
NM_000117.2:c.209A>C , LRG_745t1:c.209A>C	NP_000108.1:p.Asp70Ala
XM_024452349.1:c.1A>C	XP_024308117.1:p.Met1Leu
NM_000117.3:c.209A>C MANE Select	NP_000108.1:p.Asp70Ala