Canonical Allele Identifier: CA10605421

Gene: EMD

Linked Data

• ClinVar Variation Id: 286264
• ClinVar RCV Id: RCV000305985 ; RCV001476279
• dbSNP Id: rs886044848
• MyVariant Identifiers: chrX:g.153609341T>C (hg19) ; chrX:g.154380981T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380981T>C , CM000685.2:g.154380981T>C	GRCh38
NC_000023.10:g.153609341T>C , CM000685.1:g.153609341T>C	GRCh37
NC_000023.9:g.153262535T>C	NCBI36
NG_008677.1:g.11546T>C , LRG_745:g.11546T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.549T>C	ENSP00000507245.1:p.Pro183=
ENST00000682478.1:n.739T>C
ENST00000683576.1:n.739T>C
ENST00000683627.1:c.549T>C	ENSP00000507533.1:p.Pro183=
ENST00000684082.1:c.506T>C	ENSP00000508266.1:n.506T>C
ENST00000684633.1:n.521T>C
ENST00000684678.1:c.545T>C	ENSP00000507059.1:n.545T>C
ENST00000369842.9:c.549T>C MANE Select	ENSP00000358857.4:p.Pro183=
ENST00000369835.3:c.444T>C	ENSP00000358850.3:p.Pro148=
ENST00000369842.8:c.549T>C	ENSP00000358857.4:p.Pro183=
ENST00000428228.5:c.*454T>C	ENSP00000401081.1:n.*454T>C
ENST00000471965.1:n.338T>C
ENST00000486738.5:n.986T>C
ENST00000492448.1:n.532T>C
NM_000117.2:c.549T>C , LRG_745t1:c.549T>C	NP_000108.1:p.Pro183=
XM_024452349.1:c.555T>C	XP_024308117.1:p.Pro185=
NM_000117.3:c.549T>C MANE Select	NP_000108.1:p.Pro183=