Canonical Allele Identifier: CA519710128

Gene: EMD

Linked Data

• ClinVar Variation Id: 2104596
• ClinVar RCV Id: RCV003031464
• gnomAD v4: X-154381104-G-C
• MyVariant Identifiers: chrX:g.153609464G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381104G>C , CM000685.2:g.154381104G>C	GRCh38
NC_000023.10:g.153609464G>C , CM000685.1:g.153609464G>C	GRCh37
NC_000023.9:g.153262658G>C	NCBI36
NG_008677.1:g.11669G>C , LRG_745:g.11669G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.572+100G>C	ENSP00000507245.1:n.572+100G>C
ENST00000682478.1:n.762+100G>C
ENST00000683576.1:n.862G>C
ENST00000683627.1:c.672G>C	ENSP00000507533.1:p.Pro224=
ENST00000684082.1:c.629G>C	ENSP00000508266.1:n.629G>C
ENST00000684633.1:n.644G>C
ENST00000684678.1:c.568+100G>C	ENSP00000507059.1:n.568+100G>C
ENST00000369842.9:c.672G>C MANE Select	ENSP00000358857.4:p.Pro224=
ENST00000369835.3:c.567G>C	ENSP00000358850.3:p.Pro189=
ENST00000369842.8:c.672G>C	ENSP00000358857.4:p.Pro224=
ENST00000428228.5:c.*577G>C	ENSP00000401081.1:n.*577G>C
ENST00000471965.1:n.461G>C
ENST00000486738.5:n.1109G>C
ENST00000492448.1:n.655G>C
NM_000117.2:c.672G>C , LRG_745t1:c.672G>C	NP_000108.1:p.Pro224=
XM_024452349.1:c.678G>C	XP_024308117.1:p.Pro226=
NM_000117.3:c.672G>C MANE Select	NP_000108.1:p.Pro224=