Canonical Allele Identifier: CA645290432

Gene: EMD

Linked Data

• ClinVar Variation Id: 1627957
• ClinVar RCV Id: RCV002123298
• dbSNP Id: rs1185461600
• gnomAD v2: X-153609230-C-T
• gnomAD v3: X-154380870-C-T
• gnomAD v4: X-154380870-C-T
• MyVariant Identifiers: chrX:g.153609230C>T (hg19) ; chrX:g.154380870C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380870C>T , CM000685.2:g.154380870C>T	GRCh38
NC_000023.10:g.153609230C>T , CM000685.1:g.153609230C>T	GRCh37
NC_000023.9:g.153262424C>T	NCBI36
NG_008677.1:g.11435C>T , LRG_745:g.11435C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.450-12C>T	ENSP00000507245.1:n.450-12C>T
ENST00000682478.1:n.640-12C>T
ENST00000683576.1:n.640-12C>T
ENST00000683627.1:c.450-12C>T	ENSP00000507533.1:n.450-12C>T
ENST00000684082.1:c.407-12C>T	ENSP00000508266.1:n.407-12C>T
ENST00000684633.1:n.422-12C>T
ENST00000684678.1:c.446-12C>T	ENSP00000507059.1:n.446-12C>T
ENST00000369842.9:c.450-12C>T MANE Select	ENSP00000358857.4:n.450-12C>T
ENST00000369835.3:c.345-12C>T	ENSP00000358850.3:n.345-12C>T
ENST00000369842.8:c.450-12C>T	ENSP00000358857.4:n.450-12C>T
ENST00000428228.5:c.*355-12C>T	ENSP00000401081.1:n.*355-12C>T
ENST00000468294.5:n.477C>T
ENST00000471965.1:n.239-12C>T
ENST00000485261.1:n.707C>T
ENST00000486738.5:n.875C>T
ENST00000492448.1:n.433-12C>T
NM_000117.2:c.450-12C>T , LRG_745t1:c.450-12C>T	NP_000108.1:n.450-12C>T
XM_024452349.1:c.456-12C>T	XP_024308117.1:n.456-12C>T
NM_000117.3:c.450-12C>T MANE Select	NP_000108.1:n.450-12C>T