Canonical Allele Identifier: CA415257287

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153608056C>A (hg19) ; chrX:g.154379696C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379696C>A , CM000685.2:g.154379696C>A	GRCh38
NC_000023.10:g.153608056C>A , CM000685.1:g.153608056C>A	GRCh37
NC_000023.9:g.153261250C>A	NCBI36
NG_008677.1:g.10261C>A , LRG_745:g.10261C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.89C>A	ENSP00000507245.1:p.Thr30Asn
ENST00000682478.1:n.65C>A
ENST00000683576.1:n.65C>A
ENST00000683627.1:c.89C>A	ENSP00000507533.1:p.Thr30Asn
ENST00000684082.1:c.89C>A	ENSP00000508266.1:p.Thr30Asn
ENST00000684633.1:n.61C>A
ENST00000684678.1:c.85C>A	ENSP00000507059.1:p.Leu29Ile
ENST00000369842.9:c.89C>A MANE Select	ENSP00000358857.4:p.Thr30Asn
ENST00000369835.3:c.82+130C>A	ENSP00000358850.3:n.82+130C>A
ENST00000369842.8:c.89C>A	ENSP00000358857.4:p.Thr30Asn
ENST00000428228.5:c.60C>A	ENSP00000401081.1:p.Asn20Lys
ENST00000468294.5:n.49C>A
ENST00000485261.1:n.163+130C>A
ENST00000486738.5:n.233C>A
ENST00000492448.1:n.72C>A
ENST00000494443.5:n.146C>A
NM_000117.2:c.89C>A , LRG_745t1:c.89C>A	NP_000108.1:p.Thr30Asn
XM_024452349.1:c.-120C>A	XP_024308117.1:n.-120C>A
NM_000117.3:c.89C>A MANE Select	NP_000108.1:p.Thr30Asn