Canonical Allele Identifier: CA645171857

Gene: EMD

Linked Data

• ClinVar Variation Id: 2729787
• ClinVar RCV Id: RCV003525039
• dbSNP Id: rs1418472251
• gnomAD v2: X-153608038-G-A
• gnomAD v3: X-154379678-G-A
• gnomAD v4: X-154379678-G-A
• MyVariant Identifiers: chrX:g.153608038G>A (hg19) ; chrX:g.154379678G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379678G>A , CM000685.2:g.154379678G>A	GRCh38
NC_000023.10:g.153608038G>A , CM000685.1:g.153608038G>A	GRCh37
NC_000023.9:g.153261232G>A	NCBI36
NG_008677.1:g.10243G>A , LRG_745:g.10243G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.83-12G>A	ENSP00000507245.1:n.83-12G>A
ENST00000682478.1:n.59-12G>A
ENST00000683576.1:n.59-12G>A
ENST00000683627.1:c.83-12G>A	ENSP00000507533.1:n.83-12G>A
ENST00000684082.1:c.83-12G>A	ENSP00000508266.1:n.83-12G>A
ENST00000684633.1:n.55-12G>A
ENST00000684678.1:c.79-12G>A	ENSP00000507059.1:n.79-12G>A
ENST00000369842.9:c.83-12G>A MANE Select	ENSP00000358857.4:n.83-12G>A
ENST00000369835.3:c.82+112G>A	ENSP00000358850.3:n.82+112G>A
ENST00000369842.8:c.83-12G>A	ENSP00000358857.4:n.83-12G>A
ENST00000428228.5:c.54-12G>A	ENSP00000401081.1:n.54-12G>A
ENST00000468294.5:n.43-12G>A
ENST00000485261.1:n.163+112G>A
ENST00000486738.5:n.227-12G>A
ENST00000492448.1:n.54G>A
ENST00000494443.5:n.140-12G>A
NM_000117.2:c.83-12G>A , LRG_745t1:c.83-12G>A	NP_000108.1:n.83-12G>A
XM_024452349.1:c.-126-12G>A	XP_024308117.1:n.-126-12G>A
NM_000117.3:c.83-12G>A MANE Select	NP_000108.1:n.83-12G>A